SNP Links for Protein (Select 536288648) - SNP

Links from Protein

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Select item 14880554061.

rs1488055406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 2:241499093 (GRCh38)
2:242438508 (GRCh37)
Canonical SPDI:: NC_000002.12:241499092:C:A,NC_000002.12:241499092:C:G,NC_000002.12:241499092:C:T
Gene:: STK25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.241499093C>A, NC_000002.12:g.241499093C>G, NC_000002.12:g.241499093C>T, NC_000002.11:g.242438508C>A, NC_000002.11:g.242438508C>G, NC_000002.11:g.242438508C>T, NM_006374.5:c.667G>T, NM_006374.5:c.667G>C, NM_006374.5:c.667G>A, NM_006374.4:c.667G>T, NM_006374.4:c.667G>C, NM_006374.4:c.667G>A, XM_011510493.4:c.667G>T, XM_011510493.4:c.667G>C, XM_011510493.4:c.667G>A, XM_011510493.3:c.667G>T, XM_011510493.3:c.667G>C, XM_011510493.3:c.667G>A, XM_011510493.2:c.667G>T, XM_011510493.2:c.667G>C, XM_011510493.2:c.667G>A, XM_011510493.1:c.667G>T, XM_011510493.1:c.667G>C, XM_011510493.1:c.667G>A, XM_011510496.4:c.667G>T, XM_011510496.4:c.667G>C, XM_011510496.4:c.667G>A, XM_011510496.3:c.667G>T, XM_011510496.3:c.667G>C, XM_011510496.3:c.667G>A, XM_011510496.2:c.667G>T, XM_011510496.2:c.667G>C, XM_011510496.2:c.667G>A, XM_011510496.1:c.667G>T, XM_011510496.1:c.667G>C, XM_011510496.1:c.667G>A, XM_011510495.3:c.445G>T, XM_011510495.3:c.445G>C, XM_011510495.3:c.445G>A, XM_011510495.2:c.445G>T, XM_011510495.2:c.445G>C, XM_011510495.2:c.445G>A, XM_011510495.1:c.445G>T, XM_011510495.1:c.445G>C, XM_011510495.1:c.445G>A, XM_011510494.3:c.445G>T, XM_011510494.3:c.445G>C, XM_011510494.3:c.445G>A, XM_011510494.2:c.445G>T, XM_011510494.2:c.445G>C, XM_011510494.2:c.445G>A, XM_011510494.1:c.445G>T, XM_011510494.1:c.445G>C, XM_011510494.1:c.445G>A, NM_001271978.2:c.667G>T, NM_001271978.2:c.667G>C, NM_001271978.2:c.667G>A, NM_001271978.1:c.667G>T, NM_001271978.1:c.667G>C, NM_001271978.1:c.667G>A, NM_001271977.2:c.667G>T, NM_001271977.2:c.667G>C, NM_001271977.2:c.667G>A, NM_001271977.1:c.667G>T, NM_001271977.1:c.667G>C, NM_001271977.1:c.667G>A, NM_001282306.2:c.445G>T, NM_001282306.2:c.445G>C, NM_001282306.2:c.445G>A, NM_001282306.1:c.445G>T, NM_001282306.1:c.445G>C, NM_001282306.1:c.445G>A, NM_001282307.2:c.385G>T, NM_001282307.2:c.385G>C, NM_001282307.2:c.385G>A, NM_001282307.1:c.385G>T, NM_001282307.1:c.385G>C, NM_001282307.1:c.385G>A, XM_017003170.2:c.445G>T, XM_017003170.2:c.445G>C, XM_017003170.2:c.445G>A, XM_017003170.1:c.445G>T, XM_017003170.1:c.445G>C, XM_017003170.1:c.445G>A, NM_001282308.2:c.385G>T, NM_001282308.2:c.385G>C, NM_001282308.2:c.385G>A, NM_001282308.1:c.385G>T, NM_001282308.1:c.385G>C, NM_001282308.1:c.385G>A, NM_001271979.2:c.436G>T, NM_001271979.2:c.436G>C, NM_001271979.2:c.436G>A, NM_001271979.1:c.436G>T, NM_001271979.1:c.436G>C, NM_001271979.1:c.436G>A, NM_001271980.2:c.436G>T, NM_001271980.2:c.436G>C, NM_001271980.2:c.436G>A, NM_001271980.1:c.436G>T, NM_001271980.1:c.436G>C, NM_001271980.1:c.436G>A, XM_047442925.1:c.445G>T, XM_047442925.1:c.445G>C, XM_047442925.1:c.445G>A, NR_073530.1:n.987G>T, NR_073530.1:n.987G>C, NR_073530.1:n.987G>A, NM_001282305.1:c.385G>T, NM_001282305.1:c.385G>C, NM_001282305.1:c.385G>A, NR_073531.1:n.970G>T, NR_073531.1:n.970G>C, NR_073531.1:n.970G>A, NR_073532.1:n.890G>T, NR_073532.1:n.890G>C, NR_073532.1:n.890G>A, NR_073533.1:n.828G>T, NR_073533.1:n.828G>C, NR_073533.1:n.828G>A, XM_047442924.1:c.667G>T, XM_047442924.1:c.667G>C, XM_047442924.1:c.667G>A, NP_006365.2:p.Val223Phe, NP_006365.2:p.Val223Leu, NP_006365.2:p.Val223Ile, XP_011508795.1:p.Val223Phe, XP_011508795.1:p.Val223Leu, XP_011508795.1:p.Val223Ile, XP_011508798.1:p.Val223Phe, XP_011508798.1:p.Val223Leu, XP_011508798.1:p.Val223Ile, XP_011508797.1:p.Val149Phe, XP_011508797.1:p.Val149Leu, XP_011508797.1:p.Val149Ile, XP_011508796.1:p.Val149Phe, XP_011508796.1:p.Val149Leu, XP_011508796.1:p.Val149Ile, NP_001258907.1:p.Val223Phe, NP_001258907.1:p.Val223Leu, NP_001258907.1:p.Val223Ile, NP_001258906.1:p.Val223Phe, NP_001258906.1:p.Val223Leu, NP_001258906.1:p.Val223Ile, NP_001269235.1:p.Val149Phe, NP_001269235.1:p.Val149Leu, NP_001269235.1:p.Val149Ile, NP_001269236.1:p.Val129Phe, NP_001269236.1:p.Val129Leu, NP_001269236.1:p.Val129Ile, XP_016858659.1:p.Val149Phe, XP_016858659.1:p.Val149Leu, XP_016858659.1:p.Val149Ile, NP_001269237.1:p.Val129Phe, NP_001269237.1:p.Val129Leu, NP_001269237.1:p.Val129Ile, NP_001258908.1:p.Val146Phe, NP_001258908.1:p.Val146Leu, NP_001258908.1:p.Val146Ile, NP_001258909.1:p.Val146Phe, NP_001258909.1:p.Val146Leu, NP_001258909.1:p.Val146Ile, XP_047298881.1:p.Val149Phe, XP_047298881.1:p.Val149Leu, XP_047298881.1:p.Val149Ile, NP_001269234.1:p.Val129Phe, NP_001269234.1:p.Val129Leu, NP_001269234.1:p.Val129Ile, XP_047298880.1:p.Val223Phe, XP_047298880.1:p.Val223Leu, XP_047298880.1:p.Val223Ile

Select item 14867028142.

rs1486702814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241496403 (GRCh38)
2:242435818 (GRCh37)
Canonical SPDI:: NC_000002.12:241496402:C:T
Gene:: STK25 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.241496403C>T, NC_000002.11:g.242435818C>T, NM_006374.5:c.1236G>A, NM_006374.4:c.1236G>A, XM_011510495.3:c.1014G>A, XM_011510495.2:c.1014G>A, XM_011510495.1:c.1014G>A, XM_011510494.3:c.1014G>A, XM_011510494.2:c.1014G>A, XM_011510494.1:c.1014G>A, NM_001271978.2:c.1236G>A, NM_001271978.1:c.1236G>A, NM_001271977.2:c.1236G>A, NM_001271977.1:c.1236G>A, NM_001282306.2:c.1014G>A, NM_001282306.1:c.1014G>A, NM_001282307.2:c.954G>A, NM_001282307.1:c.954G>A, XM_017003170.2:c.1014G>A, XM_017003170.1:c.1014G>A, NM_001282308.2:c.954G>A, NM_001282308.1:c.954G>A, NM_001271979.2:c.1005G>A, NM_001271979.1:c.1005G>A, NM_001271980.2:c.1005G>A, NM_001271980.1:c.1005G>A, XM_047442925.1:c.1014G>A, NR_073530.1:n.1556G>A, NM_001282305.1:c.954G>A, NR_073531.1:n.1539G>A, NR_073532.1:n.1459G>A, NR_073533.1:n.1397G>A, XM_047442924.1:c.*23G>A

Select item 14866945853.

rs1486694585 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:241498639 (GRCh38)
2:242438054 (GRCh37)
Canonical SPDI:: NC_000002.12:241498638:A:G
Gene:: STK25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.241498639A>G, NC_000002.11:g.242438054A>G, NM_006374.5:c.917T>C, NM_006374.4:c.917T>C, XM_011510493.4:c.917T>C, XM_011510493.3:c.917T>C, XM_011510493.2:c.917T>C, XM_011510493.1:c.917T>C, XM_011510496.4:c.917T>C, XM_011510496.3:c.917T>C, XM_011510496.2:c.917T>C, XM_011510496.1:c.917T>C, XM_011510495.3:c.695T>C, XM_011510495.2:c.695T>C, XM_011510495.1:c.695T>C, XM_011510494.3:c.695T>C, XM_011510494.2:c.695T>C, XM_011510494.1:c.695T>C, NM_001271978.2:c.917T>C, NM_001271978.1:c.917T>C, NM_001271977.2:c.917T>C, NM_001271977.1:c.917T>C, NM_001282306.2:c.695T>C, NM_001282306.1:c.695T>C, NM_001282307.2:c.635T>C, NM_001282307.1:c.635T>C, XM_017003170.2:c.695T>C, XM_017003170.1:c.695T>C, NM_001282308.2:c.635T>C, NM_001282308.1:c.635T>C, NM_001271979.2:c.686T>C, NM_001271979.1:c.686T>C, NM_001271980.2:c.686T>C, NM_001271980.1:c.686T>C, XM_047442925.1:c.695T>C, NR_073530.1:n.1237T>C, NM_001282305.1:c.635T>C, NR_073531.1:n.1220T>C, NR_073532.1:n.1140T>C, NR_073533.1:n.1078T>C, XM_047442924.1:c.917T>C, NP_006365.2:p.Ile306Thr, XP_011508795.1:p.Ile306Thr, XP_011508798.1:p.Ile306Thr, XP_011508797.1:p.Ile232Thr, XP_011508796.1:p.Ile232Thr, NP_001258907.1:p.Ile306Thr, NP_001258906.1:p.Ile306Thr, NP_001269235.1:p.Ile232Thr, NP_001269236.1:p.Ile212Thr, XP_016858659.1:p.Ile232Thr, NP_001269237.1:p.Ile212Thr, NP_001258908.1:p.Ile229Thr, NP_001258909.1:p.Ile229Thr, XP_047298881.1:p.Ile232Thr, NP_001269234.1:p.Ile212Thr, XP_047298880.1:p.Ile306Thr

Select item 14850667714.

rs1485066771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:241497664 (GRCh38)
2:242437079 (GRCh37)
Canonical SPDI:: NC_000002.12:241497663:C:A,NC_000002.12:241497663:C:G
Gene:: STK25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241497664C>A, NC_000002.12:g.241497664C>G, NC_000002.11:g.242437079C>A, NC_000002.11:g.242437079C>G, NM_006374.5:c.1056G>T, NM_006374.5:c.1056G>C, NM_006374.4:c.1056G>T, NM_006374.4:c.1056G>C, XM_011510493.4:c.1056G>T, XM_011510493.4:c.1056G>C, XM_011510493.3:c.1056G>T, XM_011510493.3:c.1056G>C, XM_011510493.2:c.1056G>T, XM_011510493.2:c.1056G>C, XM_011510493.1:c.1056G>T, XM_011510493.1:c.1056G>C, XM_011510496.4:c.941G>T, XM_011510496.4:c.941G>C, XM_011510496.3:c.941G>T, XM_011510496.3:c.941G>C, XM_011510496.2:c.941G>T, XM_011510496.2:c.941G>C, XM_011510496.1:c.941G>T, XM_011510496.1:c.941G>C, XM_011510495.3:c.834G>T, XM_011510495.3:c.834G>C, XM_011510495.2:c.834G>T, XM_011510495.2:c.834G>C, XM_011510495.1:c.834G>T, XM_011510495.1:c.834G>C, XM_011510494.3:c.834G>T, XM_011510494.3:c.834G>C, XM_011510494.2:c.834G>T, XM_011510494.2:c.834G>C, XM_011510494.1:c.834G>T, XM_011510494.1:c.834G>C, NM_001271978.2:c.1056G>T, NM_001271978.2:c.1056G>C, NM_001271978.1:c.1056G>T, NM_001271978.1:c.1056G>C, NM_001271977.2:c.1056G>T, NM_001271977.2:c.1056G>C, NM_001271977.1:c.1056G>T, NM_001271977.1:c.1056G>C, NM_001282306.2:c.834G>T, NM_001282306.2:c.834G>C, NM_001282306.1:c.834G>T, NM_001282306.1:c.834G>C, NM_001282307.2:c.774G>T, NM_001282307.2:c.774G>C, NM_001282307.1:c.774G>T, NM_001282307.1:c.774G>C, XM_017003170.2:c.834G>T, XM_017003170.2:c.834G>C, XM_017003170.1:c.834G>T, XM_017003170.1:c.834G>C, NM_001282308.2:c.774G>T, NM_001282308.2:c.774G>C, NM_001282308.1:c.774G>T, NM_001282308.1:c.774G>C, NM_001271979.2:c.825G>T, NM_001271979.2:c.825G>C, NM_001271979.1:c.825G>T, NM_001271979.1:c.825G>C, NM_001271980.2:c.825G>T, NM_001271980.2:c.825G>C, NM_001271980.1:c.825G>T, NM_001271980.1:c.825G>C, XM_047442925.1:c.834G>T, XM_047442925.1:c.834G>C, NR_073530.1:n.1376G>T, NR_073530.1:n.1376G>C, NM_001282305.1:c.774G>T, NM_001282305.1:c.774G>C, NR_073531.1:n.1359G>T, NR_073531.1:n.1359G>C, NR_073532.1:n.1279G>T, NR_073532.1:n.1279G>C, NR_073533.1:n.1217G>T, NR_073533.1:n.1217G>C, XM_047442924.1:c.941G>T, XM_047442924.1:c.941G>C, NP_006365.2:p.Gln352His, NP_006365.2:p.Gln352His, XP_011508795.1:p.Gln352His, XP_011508795.1:p.Gln352His, XP_011508798.1:p.Ser314Ile, XP_011508798.1:p.Ser314Thr, XP_011508797.1:p.Gln278His, XP_011508797.1:p.Gln278His, XP_011508796.1:p.Gln278His, XP_011508796.1:p.Gln278His, NP_001258907.1:p.Gln352His, NP_001258907.1:p.Gln352His, NP_001258906.1:p.Gln352His, NP_001258906.1:p.Gln352His, NP_001269235.1:p.Gln278His, NP_001269235.1:p.Gln278His, NP_001269236.1:p.Gln258His, NP_001269236.1:p.Gln258His, XP_016858659.1:p.Gln278His, XP_016858659.1:p.Gln278His, NP_001269237.1:p.Gln258His, NP_001269237.1:p.Gln258His, NP_001258908.1:p.Gln275His, NP_001258908.1:p.Gln275His, NP_001258909.1:p.Gln275His, NP_001258909.1:p.Gln275His, XP_047298881.1:p.Gln278His, XP_047298881.1:p.Gln278His, NP_001269234.1:p.Gln258His, NP_001269234.1:p.Gln258His, XP_047298880.1:p.Ser314Ile, XP_047298880.1:p.Ser314Thr

Select item 14691874285.

rs1469187428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241498253 (GRCh38)
2:242437668 (GRCh37)
Canonical SPDI:: NC_000002.12:241498252:G:A
Gene:: STK25 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.241498253G>A, NC_000002.11:g.242437668G>A, NM_006374.5:c.1014C>T, NM_006374.4:c.1014C>T, XM_011510493.4:c.1014C>T, XM_011510493.3:c.1014C>T, XM_011510493.2:c.1014C>T, XM_011510493.1:c.1014C>T, XM_011510495.3:c.792C>T, XM_011510495.2:c.792C>T, XM_011510495.1:c.792C>T, XM_011510494.3:c.792C>T, XM_011510494.2:c.792C>T, XM_011510494.1:c.792C>T, NM_001271978.2:c.1014C>T, NM_001271978.1:c.1014C>T, NM_001271977.2:c.1014C>T, NM_001271977.1:c.1014C>T, NM_001282306.2:c.792C>T, NM_001282306.1:c.792C>T, NM_001282307.2:c.732C>T, NM_001282307.1:c.732C>T, XM_017003170.2:c.792C>T, XM_017003170.1:c.792C>T, NM_001282308.2:c.732C>T, NM_001282308.1:c.732C>T, NM_001271979.2:c.783C>T, NM_001271979.1:c.783C>T, NM_001271980.2:c.783C>T, NM_001271980.1:c.783C>T, XM_047442925.1:c.792C>T, NR_073530.1:n.1334C>T, NM_001282305.1:c.732C>T, NR_073531.1:n.1317C>T, NR_073532.1:n.1237C>T, NR_073533.1:n.1175C>T

Select item 14670203816.

rs1467020381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241499166 (GRCh38)
2:242438581 (GRCh37)
Canonical SPDI:: NC_000002.12:241499165:G:A
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000002.12:g.241499166G>A, NC_000002.11:g.242438581G>A, NM_006374.5:c.594C>T, NM_006374.4:c.594C>T, XM_011510493.4:c.594C>T, XM_011510493.3:c.594C>T, XM_011510493.2:c.594C>T, XM_011510493.1:c.594C>T, XM_011510496.4:c.594C>T, XM_011510496.3:c.594C>T, XM_011510496.2:c.594C>T, XM_011510496.1:c.594C>T, XM_011510495.3:c.372C>T, XM_011510495.2:c.372C>T, XM_011510495.1:c.372C>T, XM_011510494.3:c.372C>T, XM_011510494.2:c.372C>T, XM_011510494.1:c.372C>T, NM_001271978.2:c.594C>T, NM_001271978.1:c.594C>T, NM_001271977.2:c.594C>T, NM_001271977.1:c.594C>T, NM_001282306.2:c.372C>T, NM_001282306.1:c.372C>T, NM_001282307.2:c.312C>T, NM_001282307.1:c.312C>T, XM_017003170.2:c.372C>T, XM_017003170.1:c.372C>T, NM_001282308.2:c.312C>T, NM_001282308.1:c.312C>T, NM_001271979.2:c.363C>T, NM_001271979.1:c.363C>T, NM_001271980.2:c.363C>T, NM_001271980.1:c.363C>T, XM_047442925.1:c.372C>T, NR_073530.1:n.914C>T, NM_001282305.1:c.312C>T, NR_073531.1:n.897C>T, NR_073532.1:n.817C>T, NR_073533.1:n.755C>T, XM_047442924.1:c.594C>T

Select item 14669669377.

rs1466966937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241498742 (GRCh38)
2:242438157 (GRCh37)
Canonical SPDI:: NC_000002.12:241498741:G:A
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.241498742G>A, NC_000002.11:g.242438157G>A, NM_006374.5:c.814C>T, NM_006374.4:c.814C>T, XM_011510493.4:c.814C>T, XM_011510493.3:c.814C>T, XM_011510493.2:c.814C>T, XM_011510493.1:c.814C>T, XM_011510496.4:c.814C>T, XM_011510496.3:c.814C>T, XM_011510496.2:c.814C>T, XM_011510496.1:c.814C>T, XM_011510495.3:c.592C>T, XM_011510495.2:c.592C>T, XM_011510495.1:c.592C>T, XM_011510494.3:c.592C>T, XM_011510494.2:c.592C>T, XM_011510494.1:c.592C>T, NM_001271978.2:c.814C>T, NM_001271978.1:c.814C>T, NM_001271977.2:c.814C>T, NM_001271977.1:c.814C>T, NM_001282306.2:c.592C>T, NM_001282306.1:c.592C>T, NM_001282307.2:c.532C>T, NM_001282307.1:c.532C>T, XM_017003170.2:c.592C>T, XM_017003170.1:c.592C>T, NM_001282308.2:c.532C>T, NM_001282308.1:c.532C>T, NM_001271979.2:c.583C>T, NM_001271979.1:c.583C>T, NM_001271980.2:c.583C>T, NM_001271980.1:c.583C>T, XM_047442925.1:c.592C>T, NR_073530.1:n.1134C>T, NM_001282305.1:c.532C>T, NR_073531.1:n.1117C>T, NR_073532.1:n.1037C>T, NR_073533.1:n.975C>T, XM_047442924.1:c.814C>T, NP_006365.2:p.Arg272Cys, XP_011508795.1:p.Arg272Cys, XP_011508798.1:p.Arg272Cys, XP_011508797.1:p.Arg198Cys, XP_011508796.1:p.Arg198Cys, NP_001258907.1:p.Arg272Cys, NP_001258906.1:p.Arg272Cys, NP_001269235.1:p.Arg198Cys, NP_001269236.1:p.Arg178Cys, XP_016858659.1:p.Arg198Cys, NP_001269237.1:p.Arg178Cys, NP_001258908.1:p.Arg195Cys, NP_001258909.1:p.Arg195Cys, XP_047298881.1:p.Arg198Cys, NP_001269234.1:p.Arg178Cys, XP_047298880.1:p.Arg272Cys

Select item 14669141048.

rs1466914104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241499140 (GRCh38)
2:242438555 (GRCh37)
Canonical SPDI:: NC_000002.12:241499139:T:C
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241499140T>C, NC_000002.11:g.242438555T>C, NM_006374.5:c.620A>G, NM_006374.4:c.620A>G, XM_011510493.4:c.620A>G, XM_011510493.3:c.620A>G, XM_011510493.2:c.620A>G, XM_011510493.1:c.620A>G, XM_011510496.4:c.620A>G, XM_011510496.3:c.620A>G, XM_011510496.2:c.620A>G, XM_011510496.1:c.620A>G, XM_011510495.3:c.398A>G, XM_011510495.2:c.398A>G, XM_011510495.1:c.398A>G, XM_011510494.3:c.398A>G, XM_011510494.2:c.398A>G, XM_011510494.1:c.398A>G, NM_001271978.2:c.620A>G, NM_001271978.1:c.620A>G, NM_001271977.2:c.620A>G, NM_001271977.1:c.620A>G, NM_001282306.2:c.398A>G, NM_001282306.1:c.398A>G, NM_001282307.2:c.338A>G, NM_001282307.1:c.338A>G, XM_017003170.2:c.398A>G, XM_017003170.1:c.398A>G, NM_001282308.2:c.338A>G, NM_001282308.1:c.338A>G, NM_001271979.2:c.389A>G, NM_001271979.1:c.389A>G, NM_001271980.2:c.389A>G, NM_001271980.1:c.389A>G, XM_047442925.1:c.398A>G, NR_073530.1:n.940A>G, NM_001282305.1:c.338A>G, NR_073531.1:n.923A>G, NR_073532.1:n.843A>G, NR_073533.1:n.781A>G, XM_047442924.1:c.620A>G, NP_006365.2:p.Glu207Gly, XP_011508795.1:p.Glu207Gly, XP_011508798.1:p.Glu207Gly, XP_011508797.1:p.Glu133Gly, XP_011508796.1:p.Glu133Gly, NP_001258907.1:p.Glu207Gly, NP_001258906.1:p.Glu207Gly, NP_001269235.1:p.Glu133Gly, NP_001269236.1:p.Glu113Gly, XP_016858659.1:p.Glu133Gly, NP_001269237.1:p.Glu113Gly, NP_001258908.1:p.Glu130Gly, NP_001258909.1:p.Glu130Gly, XP_047298881.1:p.Glu133Gly, NP_001269234.1:p.Glu113Gly, XP_047298880.1:p.Glu207Gly

Select item 14652656679.

rs1465265667 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:241500253 (GRCh38)
2:242439668 (GRCh37)
Canonical SPDI:: NC_000002.12:241500252:T:C
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241500253T>C, NC_000002.11:g.242439668T>C, NM_006374.5:c.347A>G, NM_006374.4:c.347A>G, XM_011510493.4:c.347A>G, XM_011510493.3:c.347A>G, XM_011510493.2:c.347A>G, XM_011510493.1:c.347A>G, XM_011510496.4:c.347A>G, XM_011510496.3:c.347A>G, XM_011510496.2:c.347A>G, XM_011510496.1:c.347A>G, XM_011510495.3:c.125A>G, XM_011510495.2:c.125A>G, XM_011510495.1:c.125A>G, XM_011510494.3:c.125A>G, XM_011510494.2:c.125A>G, XM_011510494.1:c.125A>G, NM_001271978.2:c.347A>G, NM_001271978.1:c.347A>G, NM_001271977.2:c.347A>G, NM_001271977.1:c.347A>G, NM_001282306.2:c.125A>G, NM_001282306.1:c.125A>G, NM_001282307.2:c.65A>G, NM_001282307.1:c.65A>G, XM_017003170.2:c.125A>G, XM_017003170.1:c.125A>G, NM_001282308.2:c.65A>G, NM_001282308.1:c.65A>G, NM_001271979.2:c.116A>G, NM_001271979.1:c.116A>G, NM_001271980.2:c.116A>G, NM_001271980.1:c.116A>G, XM_047442925.1:c.125A>G, NR_073530.1:n.667A>G, NM_001282305.1:c.65A>G, NR_073531.1:n.650A>G, NR_073532.1:n.570A>G, NR_073533.1:n.508A>G, XM_047442924.1:c.347A>G, NP_006365.2:p.Tyr116Cys, XP_011508795.1:p.Tyr116Cys, XP_011508798.1:p.Tyr116Cys, XP_011508797.1:p.Tyr42Cys, XP_011508796.1:p.Tyr42Cys, NP_001258907.1:p.Tyr116Cys, NP_001258906.1:p.Tyr116Cys, NP_001269235.1:p.Tyr42Cys, NP_001269236.1:p.Tyr22Cys, XP_016858659.1:p.Tyr42Cys, NP_001269237.1:p.Tyr22Cys, NP_001258908.1:p.Tyr39Cys, NP_001258909.1:p.Tyr39Cys, XP_047298881.1:p.Tyr42Cys, NP_001269234.1:p.Tyr22Cys, XP_047298880.1:p.Tyr116Cys

Select item 146199490510.

rs1461994905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:241496505 (GRCh38)
2:242435920 (GRCh37)
Canonical SPDI:: NC_000002.12:241496504:C:A
Gene:: STK25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241496505C>A, NC_000002.11:g.242435920C>A, NM_006374.5:c.1134G>T, NM_006374.4:c.1134G>T, XM_011510495.3:c.912G>T, XM_011510495.2:c.912G>T, XM_011510495.1:c.912G>T, XM_011510494.3:c.912G>T, XM_011510494.2:c.912G>T, XM_011510494.1:c.912G>T, NM_001271978.2:c.1134G>T, NM_001271978.1:c.1134G>T, NM_001271977.2:c.1134G>T, NM_001271977.1:c.1134G>T, NM_001282306.2:c.912G>T, NM_001282306.1:c.912G>T, NM_001282307.2:c.852G>T, NM_001282307.1:c.852G>T, XM_017003170.2:c.912G>T, XM_017003170.1:c.912G>T, NM_001282308.2:c.852G>T, NM_001282308.1:c.852G>T, NM_001271979.2:c.903G>T, NM_001271979.1:c.903G>T, NM_001271980.2:c.903G>T, NM_001271980.1:c.903G>T, XM_047442925.1:c.912G>T, NR_073530.1:n.1454G>T, NM_001282305.1:c.852G>T, NR_073531.1:n.1437G>T, NR_073532.1:n.1357G>T, NR_073533.1:n.1295G>T, XM_047442924.1:c.1019G>T, XP_047298880.1:p.Gly340Val

Select item 146179640811.

rs1461796408 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241498325 (GRCh38)
2:242437740 (GRCh37)
Canonical SPDI:: NC_000002.12:241498324:C:T
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241498325C>T, NC_000002.11:g.242437740C>T, NM_006374.5:c.942G>A, NM_006374.4:c.942G>A, XM_011510493.4:c.942G>A, XM_011510493.3:c.942G>A, XM_011510493.2:c.942G>A, XM_011510493.1:c.942G>A, XM_011510495.3:c.720G>A, XM_011510495.2:c.720G>A, XM_011510495.1:c.720G>A, XM_011510494.3:c.720G>A, XM_011510494.2:c.720G>A, XM_011510494.1:c.720G>A, NM_001271978.2:c.942G>A, NM_001271978.1:c.942G>A, NM_001271977.2:c.942G>A, NM_001271977.1:c.942G>A, NM_001282306.2:c.720G>A, NM_001282306.1:c.720G>A, NM_001282307.2:c.660G>A, NM_001282307.1:c.660G>A, XM_017003170.2:c.720G>A, XM_017003170.1:c.720G>A, NM_001282308.2:c.660G>A, NM_001282308.1:c.660G>A, NM_001271979.2:c.711G>A, NM_001271979.1:c.711G>A, NM_001271980.2:c.711G>A, NM_001271980.1:c.711G>A, XM_047442925.1:c.720G>A, NR_073530.1:n.1262G>A, NM_001282305.1:c.660G>A, NR_073531.1:n.1245G>A, NR_073532.1:n.1165G>A, NR_073533.1:n.1103G>A

Select item 145946749012.

rs1459467490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241498752 (GRCh38)
2:242438167 (GRCh37)
Canonical SPDI:: NC_000002.12:241498751:C:T
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000002.12:g.241498752C>T, NC_000002.11:g.242438167C>T, NM_006374.5:c.804G>A, NM_006374.4:c.804G>A, XM_011510493.4:c.804G>A, XM_011510493.3:c.804G>A, XM_011510493.2:c.804G>A, XM_011510493.1:c.804G>A, XM_011510496.4:c.804G>A, XM_011510496.3:c.804G>A, XM_011510496.2:c.804G>A, XM_011510496.1:c.804G>A, XM_011510495.3:c.582G>A, XM_011510495.2:c.582G>A, XM_011510495.1:c.582G>A, XM_011510494.3:c.582G>A, XM_011510494.2:c.582G>A, XM_011510494.1:c.582G>A, NM_001271978.2:c.804G>A, NM_001271978.1:c.804G>A, NM_001271977.2:c.804G>A, NM_001271977.1:c.804G>A, NM_001282306.2:c.582G>A, NM_001282306.1:c.582G>A, NM_001282307.2:c.522G>A, NM_001282307.1:c.522G>A, XM_017003170.2:c.582G>A, XM_017003170.1:c.582G>A, NM_001282308.2:c.522G>A, NM_001282308.1:c.522G>A, NM_001271979.2:c.573G>A, NM_001271979.1:c.573G>A, NM_001271980.2:c.573G>A, NM_001271980.1:c.573G>A, XM_047442925.1:c.582G>A, NR_073530.1:n.1124G>A, NM_001282305.1:c.522G>A, NR_073531.1:n.1107G>A, NR_073532.1:n.1027G>A, NR_073533.1:n.965G>A, XM_047442924.1:c.804G>A

Select item 145931919013.

rs1459319190 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:241499034 (GRCh38)
2:242438449 (GRCh37)
Canonical SPDI:: NC_000002.12:241499033:GGG:GG
Gene:: STK25 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000051/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.00008/1 (GoESP)
HGVS:: NC_000002.12:g.241499036del, NC_000002.11:g.242438451del, NM_006374.5:c.726del, NM_006374.4:c.726del, XM_011510493.4:c.726del, XM_011510493.3:c.726del, XM_011510493.2:c.726del, XM_011510493.1:c.726del, XM_011510496.4:c.726del, XM_011510496.3:c.726del, XM_011510496.2:c.726del, XM_011510496.1:c.726del, XM_011510495.3:c.504del, XM_011510495.2:c.504del, XM_011510495.1:c.504del, XM_011510494.3:c.504del, XM_011510494.2:c.504del, XM_011510494.1:c.504del, NM_001271978.2:c.726del, NM_001271978.1:c.726del, NM_001271977.2:c.726del, NM_001271977.1:c.726del, NM_001282306.2:c.504del, NM_001282306.1:c.504del, NM_001282307.2:c.444del, NM_001282307.1:c.444del, XM_017003170.2:c.504del, XM_017003170.1:c.504del, NM_001282308.2:c.444del, NM_001282308.1:c.444del, NM_001271979.2:c.495del, NM_001271979.1:c.495del, NM_001271980.2:c.495del, NM_001271980.1:c.495del, XM_047442925.1:c.504del, NR_073530.1:n.1046del, NM_001282305.1:c.444del, NR_073531.1:n.1029del, NR_073532.1:n.949del, NR_073533.1:n.887del, XM_047442924.1:c.726del, NP_006365.2:p.Phe243fs, XP_011508795.1:p.Phe243fs, XP_011508798.1:p.Phe243fs, XP_011508797.1:p.Phe169fs, XP_011508796.1:p.Phe169fs, NP_001258907.1:p.Phe243fs, NP_001258906.1:p.Phe243fs, NP_001269235.1:p.Phe169fs, NP_001269236.1:p.Phe149fs, XP_016858659.1:p.Phe169fs, NP_001269237.1:p.Phe149fs, NP_001258908.1:p.Phe166fs, NP_001258909.1:p.Phe166fs, XP_047298881.1:p.Phe169fs, NP_001269234.1:p.Phe149fs, XP_047298880.1:p.Phe243fs

Select item 145847137914.

rs1458471379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:241496430 (GRCh38)
2:242435845 (GRCh37)
Canonical SPDI:: NC_000002.12:241496429:C:T
Gene:: STK25 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241496430C>T, NC_000002.11:g.242435845C>T, NM_006374.5:c.1209G>A, NM_006374.4:c.1209G>A, XM_011510495.3:c.987G>A, XM_011510495.2:c.987G>A, XM_011510495.1:c.987G>A, XM_011510494.3:c.987G>A, XM_011510494.2:c.987G>A, XM_011510494.1:c.987G>A, NM_001271978.2:c.1209G>A, NM_001271978.1:c.1209G>A, NM_001271977.2:c.1209G>A, NM_001271977.1:c.1209G>A, NM_001282306.2:c.987G>A, NM_001282306.1:c.987G>A, NM_001282307.2:c.927G>A, NM_001282307.1:c.927G>A, XM_017003170.2:c.987G>A, XM_017003170.1:c.987G>A, NM_001282308.2:c.927G>A, NM_001282308.1:c.927G>A, NM_001271979.2:c.978G>A, NM_001271979.1:c.978G>A, NM_001271980.2:c.978G>A, NM_001271980.1:c.978G>A, XM_047442925.1:c.987G>A, NR_073530.1:n.1529G>A, NM_001282305.1:c.927G>A, NR_073531.1:n.1512G>A, NR_073532.1:n.1432G>A, NR_073533.1:n.1370G>A, XM_047442924.1:c.1094G>A, XP_047298880.1:p.Ser365Asn

Select item 145521868515.

rs1455218685 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:241498763 (GRCh38)
2:242438178 (GRCh37)
Canonical SPDI:: NC_000002.12:241498762:G:A
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.241498763G>A, NC_000002.11:g.242438178G>A, NM_006374.5:c.793C>T, NM_006374.4:c.793C>T, XM_011510493.4:c.793C>T, XM_011510493.3:c.793C>T, XM_011510493.2:c.793C>T, XM_011510493.1:c.793C>T, XM_011510496.4:c.793C>T, XM_011510496.3:c.793C>T, XM_011510496.2:c.793C>T, XM_011510496.1:c.793C>T, XM_011510495.3:c.571C>T, XM_011510495.2:c.571C>T, XM_011510495.1:c.571C>T, XM_011510494.3:c.571C>T, XM_011510494.2:c.571C>T, XM_011510494.1:c.571C>T, NM_001271978.2:c.793C>T, NM_001271978.1:c.793C>T, NM_001271977.2:c.793C>T, NM_001271977.1:c.793C>T, NM_001282306.2:c.571C>T, NM_001282306.1:c.571C>T, NM_001282307.2:c.511C>T, NM_001282307.1:c.511C>T, XM_017003170.2:c.571C>T, XM_017003170.1:c.571C>T, NM_001282308.2:c.511C>T, NM_001282308.1:c.511C>T, NM_001271979.2:c.562C>T, NM_001271979.1:c.562C>T, NM_001271980.2:c.562C>T, NM_001271980.1:c.562C>T, XM_047442925.1:c.571C>T, NR_073530.1:n.1113C>T, NM_001282305.1:c.511C>T, NR_073531.1:n.1096C>T, NR_073532.1:n.1016C>T, NR_073533.1:n.954C>T, XM_047442924.1:c.793C>T

Select item 145479169116.

rs1454791691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:241499036 (GRCh38)
2:242438451 (GRCh37)
Canonical SPDI:: NC_000002.12:241499035:G:C
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.241499036G>C, NC_000002.11:g.242438451G>C, NM_006374.5:c.724C>G, NM_006374.4:c.724C>G, XM_011510493.4:c.724C>G, XM_011510493.3:c.724C>G, XM_011510493.2:c.724C>G, XM_011510493.1:c.724C>G, XM_011510496.4:c.724C>G, XM_011510496.3:c.724C>G, XM_011510496.2:c.724C>G, XM_011510496.1:c.724C>G, XM_011510495.3:c.502C>G, XM_011510495.2:c.502C>G, XM_011510495.1:c.502C>G, XM_011510494.3:c.502C>G, XM_011510494.2:c.502C>G, XM_011510494.1:c.502C>G, NM_001271978.2:c.724C>G, NM_001271978.1:c.724C>G, NM_001271977.2:c.724C>G, NM_001271977.1:c.724C>G, NM_001282306.2:c.502C>G, NM_001282306.1:c.502C>G, NM_001282307.2:c.442C>G, NM_001282307.1:c.442C>G, XM_017003170.2:c.502C>G, XM_017003170.1:c.502C>G, NM_001282308.2:c.442C>G, NM_001282308.1:c.442C>G, NM_001271979.2:c.493C>G, NM_001271979.1:c.493C>G, NM_001271980.2:c.493C>G, NM_001271980.1:c.493C>G, XM_047442925.1:c.502C>G, NR_073530.1:n.1044C>G, NM_001282305.1:c.442C>G, NR_073531.1:n.1027C>G, NR_073532.1:n.947C>G, NR_073533.1:n.885C>G, XM_047442924.1:c.724C>G, NP_006365.2:p.Pro242Ala, XP_011508795.1:p.Pro242Ala, XP_011508798.1:p.Pro242Ala, XP_011508797.1:p.Pro168Ala, XP_011508796.1:p.Pro168Ala, NP_001258907.1:p.Pro242Ala, NP_001258906.1:p.Pro242Ala, NP_001269235.1:p.Pro168Ala, NP_001269236.1:p.Pro148Ala, XP_016858659.1:p.Pro168Ala, NP_001269237.1:p.Pro148Ala, NP_001258908.1:p.Pro165Ala, NP_001258909.1:p.Pro165Ala, XP_047298881.1:p.Pro168Ala, NP_001269234.1:p.Pro148Ala, XP_047298880.1:p.Pro242Ala

Select item 145177903217.

rs1451779032 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 2:241495685 (GRCh38)
2:242435100 (GRCh37)
Canonical SPDI:: NC_000002.12:241495684:T:C,NC_000002.12:241495684:T:G
Gene:: STK25 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241495685T>C, NC_000002.12:g.241495685T>G, NC_000002.11:g.242435100T>C, NC_000002.11:g.242435100T>G, NM_006374.5:c.1258A>G, NM_006374.5:c.1258A>C, NM_006374.4:c.1258A>G, NM_006374.4:c.1258A>C, XM_011510495.3:c.1036A>G, XM_011510495.3:c.1036A>C, XM_011510495.2:c.1036A>G, XM_011510495.2:c.1036A>C, XM_011510495.1:c.1036A>G, XM_011510495.1:c.1036A>C, XM_011510494.3:c.1036A>G, XM_011510494.3:c.1036A>C, XM_011510494.2:c.1036A>G, XM_011510494.2:c.1036A>C, XM_011510494.1:c.1036A>G, XM_011510494.1:c.1036A>C, NM_001271978.2:c.1258A>G, NM_001271978.2:c.1258A>C, NM_001271978.1:c.1258A>G, NM_001271978.1:c.1258A>C, NM_001271977.2:c.1258A>G, NM_001271977.2:c.1258A>C, NM_001271977.1:c.1258A>G, NM_001271977.1:c.1258A>C, NM_001282306.2:c.1036A>G, NM_001282306.2:c.1036A>C, NM_001282306.1:c.1036A>G, NM_001282306.1:c.1036A>C, NM_001282307.2:c.976A>G, NM_001282307.2:c.976A>C, NM_001282307.1:c.976A>G, NM_001282307.1:c.976A>C, XM_017003170.2:c.1036A>G, XM_017003170.2:c.1036A>C, XM_017003170.1:c.1036A>G, XM_017003170.1:c.1036A>C, NM_001282308.2:c.976A>G, NM_001282308.2:c.976A>C, NM_001282308.1:c.976A>G, NM_001282308.1:c.976A>C, NM_001271979.2:c.1027A>G, NM_001271979.2:c.1027A>C, NM_001271979.1:c.1027A>G, NM_001271979.1:c.1027A>C, NM_001271980.2:c.1027A>G, NM_001271980.2:c.1027A>C, NM_001271980.1:c.1027A>G, NM_001271980.1:c.1027A>C, XM_047442925.1:c.1036A>G, XM_047442925.1:c.1036A>C, NR_073530.1:n.1578A>G, NR_073530.1:n.1578A>C, NM_001282305.1:c.976A>G, NM_001282305.1:c.976A>C, NR_073531.1:n.1561A>G, NR_073531.1:n.1561A>C, NR_073532.1:n.1481A>G, NR_073532.1:n.1481A>C, NR_073533.1:n.1419A>G, NR_073533.1:n.1419A>C, NP_006365.2:p.Asn420Asp, NP_006365.2:p.Asn420His, XP_011508797.1:p.Asn346Asp, XP_011508797.1:p.Asn346His, XP_011508796.1:p.Asn346Asp, XP_011508796.1:p.Asn346His, NP_001258907.1:p.Asn420Asp, NP_001258907.1:p.Asn420His, NP_001258906.1:p.Asn420Asp, NP_001258906.1:p.Asn420His, NP_001269235.1:p.Asn346Asp, NP_001269235.1:p.Asn346His, NP_001269236.1:p.Asn326Asp, NP_001269236.1:p.Asn326His, XP_016858659.1:p.Asn346Asp, XP_016858659.1:p.Asn346His, NP_001269237.1:p.Asn326Asp, NP_001269237.1:p.Asn326His, NP_001258908.1:p.Asn343Asp, NP_001258908.1:p.Asn343His, NP_001258909.1:p.Asn343Asp, NP_001258909.1:p.Asn343His, XP_047298881.1:p.Asn346Asp, XP_047298881.1:p.Asn346His, NP_001269234.1:p.Asn326Asp, NP_001269234.1:p.Asn326His

Select item 144765530518.

rs1447655305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:241498709 (GRCh38)
2:242438124 (GRCh37)
Canonical SPDI:: NC_000002.12:241498708:G:C
Gene:: STK25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241498709G>C, NC_000002.11:g.242438124G>C, NM_006374.5:c.847C>G, NM_006374.4:c.847C>G, XM_011510493.4:c.847C>G, XM_011510493.3:c.847C>G, XM_011510493.2:c.847C>G, XM_011510493.1:c.847C>G, XM_011510496.4:c.847C>G, XM_011510496.3:c.847C>G, XM_011510496.2:c.847C>G, XM_011510496.1:c.847C>G, XM_011510495.3:c.625C>G, XM_011510495.2:c.625C>G, XM_011510495.1:c.625C>G, XM_011510494.3:c.625C>G, XM_011510494.2:c.625C>G, XM_011510494.1:c.625C>G, NM_001271978.2:c.847C>G, NM_001271978.1:c.847C>G, NM_001271977.2:c.847C>G, NM_001271977.1:c.847C>G, NM_001282306.2:c.625C>G, NM_001282306.1:c.625C>G, NM_001282307.2:c.565C>G, NM_001282307.1:c.565C>G, XM_017003170.2:c.625C>G, XM_017003170.1:c.625C>G, NM_001282308.2:c.565C>G, NM_001282308.1:c.565C>G, NM_001271979.2:c.616C>G, NM_001271979.1:c.616C>G, NM_001271980.2:c.616C>G, NM_001271980.1:c.616C>G, XM_047442925.1:c.625C>G, NR_073530.1:n.1167C>G, NM_001282305.1:c.565C>G, NR_073531.1:n.1150C>G, NR_073532.1:n.1070C>G, NR_073533.1:n.1008C>G, XM_047442924.1:c.847C>G, NP_006365.2:p.Leu283Val, XP_011508795.1:p.Leu283Val, XP_011508798.1:p.Leu283Val, XP_011508797.1:p.Leu209Val, XP_011508796.1:p.Leu209Val, NP_001258907.1:p.Leu283Val, NP_001258906.1:p.Leu283Val, NP_001269235.1:p.Leu209Val, NP_001269236.1:p.Leu189Val, XP_016858659.1:p.Leu209Val, NP_001269237.1:p.Leu189Val, NP_001258908.1:p.Leu206Val, NP_001258909.1:p.Leu206Val, XP_047298881.1:p.Leu209Val, NP_001269234.1:p.Leu189Val, XP_047298880.1:p.Leu283Val

Select item 144643760519.

rs1446437605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:241497636 (GRCh38)
2:242437051 (GRCh37)
Canonical SPDI:: NC_000002.12:241497635:C:A,NC_000002.12:241497635:C:G
Gene:: STK25 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.241497636C>A, NC_000002.12:g.241497636C>G, NC_000002.11:g.242437051C>A, NC_000002.11:g.242437051C>G, NM_006374.5:c.1084G>T, NM_006374.5:c.1084G>C, NM_006374.4:c.1084G>T, NM_006374.4:c.1084G>C, XM_011510493.4:c.1084G>T, XM_011510493.4:c.1084G>C, XM_011510493.3:c.1084G>T, XM_011510493.3:c.1084G>C, XM_011510493.2:c.1084G>T, XM_011510493.2:c.1084G>C, XM_011510493.1:c.1084G>T, XM_011510493.1:c.1084G>C, XM_011510496.4:c.969G>T, XM_011510496.4:c.969G>C, XM_011510496.3:c.969G>T, XM_011510496.3:c.969G>C, XM_011510496.2:c.969G>T, XM_011510496.2:c.969G>C, XM_011510496.1:c.969G>T, XM_011510496.1:c.969G>C, XM_011510495.3:c.862G>T, XM_011510495.3:c.862G>C, XM_011510495.2:c.862G>T, XM_011510495.2:c.862G>C, XM_011510495.1:c.862G>T, XM_011510495.1:c.862G>C, XM_011510494.3:c.862G>T, XM_011510494.3:c.862G>C, XM_011510494.2:c.862G>T, XM_011510494.2:c.862G>C, XM_011510494.1:c.862G>T, XM_011510494.1:c.862G>C, NM_001271978.2:c.1084G>T, NM_001271978.2:c.1084G>C, NM_001271978.1:c.1084G>T, NM_001271978.1:c.1084G>C, NM_001271977.2:c.1084G>T, NM_001271977.2:c.1084G>C, NM_001271977.1:c.1084G>T, NM_001271977.1:c.1084G>C, NM_001282306.2:c.862G>T, NM_001282306.2:c.862G>C, NM_001282306.1:c.862G>T, NM_001282306.1:c.862G>C, NM_001282307.2:c.802G>T, NM_001282307.2:c.802G>C, NM_001282307.1:c.802G>T, NM_001282307.1:c.802G>C, XM_017003170.2:c.862G>T, XM_017003170.2:c.862G>C, XM_017003170.1:c.862G>T, XM_017003170.1:c.862G>C, NM_001282308.2:c.802G>T, NM_001282308.2:c.802G>C, NM_001282308.1:c.802G>T, NM_001282308.1:c.802G>C, NM_001271979.2:c.853G>T, NM_001271979.2:c.853G>C, NM_001271979.1:c.853G>T, NM_001271979.1:c.853G>C, NM_001271980.2:c.853G>T, NM_001271980.2:c.853G>C, NM_001271980.1:c.853G>T, NM_001271980.1:c.853G>C, XM_047442925.1:c.862G>T, XM_047442925.1:c.862G>C, NR_073530.1:n.1404G>T, NR_073530.1:n.1404G>C, NM_001282305.1:c.802G>T, NM_001282305.1:c.802G>C, NR_073531.1:n.1387G>T, NR_073531.1:n.1387G>C, NR_073532.1:n.1307G>T, NR_073532.1:n.1307G>C, NR_073533.1:n.1245G>T, NR_073533.1:n.1245G>C, XM_047442924.1:c.969G>T, XM_047442924.1:c.969G>C, NP_006365.2:p.Val362Phe, NP_006365.2:p.Val362Leu, XP_011508795.1:p.Val362Phe, XP_011508795.1:p.Val362Leu, XP_011508798.1:p.Trp323Cys, XP_011508798.1:p.Trp323Cys, XP_011508797.1:p.Val288Phe, XP_011508797.1:p.Val288Leu, XP_011508796.1:p.Val288Phe, XP_011508796.1:p.Val288Leu, NP_001258907.1:p.Val362Phe, NP_001258907.1:p.Val362Leu, NP_001258906.1:p.Val362Phe, NP_001258906.1:p.Val362Leu, NP_001269235.1:p.Val288Phe, NP_001269235.1:p.Val288Leu, NP_001269236.1:p.Val268Phe, NP_001269236.1:p.Val268Leu, XP_016858659.1:p.Val288Phe, XP_016858659.1:p.Val288Leu, NP_001269237.1:p.Val268Phe, NP_001269237.1:p.Val268Leu, NP_001258908.1:p.Val285Phe, NP_001258908.1:p.Val285Leu, NP_001258909.1:p.Val285Phe, NP_001258909.1:p.Val285Leu, XP_047298881.1:p.Val288Phe, XP_047298881.1:p.Val288Leu, NP_001269234.1:p.Val268Phe, NP_001269234.1:p.Val268Leu, XP_047298880.1:p.Trp323Cys, XP_047298880.1:p.Trp323Cys

Select item 144129266120.

rs1441292661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:241498284 (GRCh38)
2:242437699 (GRCh37)
Canonical SPDI:: NC_000002.12:241498283:C:G,NC_000002.12:241498283:C:T
Gene:: STK25 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000002.12:g.241498284C>G, NC_000002.12:g.241498284C>T, NC_000002.11:g.242437699C>G, NC_000002.11:g.242437699C>T, NM_006374.5:c.983G>C, NM_006374.5:c.983G>A, NM_006374.4:c.983G>C, NM_006374.4:c.983G>A, XM_011510493.4:c.983G>C, XM_011510493.4:c.983G>A, XM_011510493.3:c.983G>C, XM_011510493.3:c.983G>A, XM_011510493.2:c.983G>C, XM_011510493.2:c.983G>A, XM_011510493.1:c.983G>C, XM_011510493.1:c.983G>A, XM_011510495.3:c.761G>C, XM_011510495.3:c.761G>A, XM_011510495.2:c.761G>C, XM_011510495.2:c.761G>A, XM_011510495.1:c.761G>C, XM_011510495.1:c.761G>A, XM_011510494.3:c.761G>C, XM_011510494.3:c.761G>A, XM_011510494.2:c.761G>C, XM_011510494.2:c.761G>A, XM_011510494.1:c.761G>C, XM_011510494.1:c.761G>A, NM_001271978.2:c.983G>C, NM_001271978.2:c.983G>A, NM_001271978.1:c.983G>C, NM_001271978.1:c.983G>A, NM_001271977.2:c.983G>C, NM_001271977.2:c.983G>A, NM_001271977.1:c.983G>C, NM_001271977.1:c.983G>A, NM_001282306.2:c.761G>C, NM_001282306.2:c.761G>A, NM_001282306.1:c.761G>C, NM_001282306.1:c.761G>A, NM_001282307.2:c.701G>C, NM_001282307.2:c.701G>A, NM_001282307.1:c.701G>C, NM_001282307.1:c.701G>A, XM_017003170.2:c.761G>C, XM_017003170.2:c.761G>A, XM_017003170.1:c.761G>C, XM_017003170.1:c.761G>A, NM_001282308.2:c.701G>C, NM_001282308.2:c.701G>A, NM_001282308.1:c.701G>C, NM_001282308.1:c.701G>A, NM_001271979.2:c.752G>C, NM_001271979.2:c.752G>A, NM_001271979.1:c.752G>C, NM_001271979.1:c.752G>A, NM_001271980.2:c.752G>C, NM_001271980.2:c.752G>A, NM_001271980.1:c.752G>C, NM_001271980.1:c.752G>A, XM_047442925.1:c.761G>C, XM_047442925.1:c.761G>A, NR_073530.1:n.1303G>C, NR_073530.1:n.1303G>A, NM_001282305.1:c.701G>C, NM_001282305.1:c.701G>A, NR_073531.1:n.1286G>C, NR_073531.1:n.1286G>A, NR_073532.1:n.1206G>C, NR_073532.1:n.1206G>A, NR_073533.1:n.1144G>C, NR_073533.1:n.1144G>A, NP_006365.2:p.Ser328Thr, NP_006365.2:p.Ser328Asn, XP_011508795.1:p.Ser328Thr, XP_011508795.1:p.Ser328Asn, XP_011508797.1:p.Ser254Thr, XP_011508797.1:p.Ser254Asn, XP_011508796.1:p.Ser254Thr, XP_011508796.1:p.Ser254Asn, NP_001258907.1:p.Ser328Thr, NP_001258907.1:p.Ser328Asn, NP_001258906.1:p.Ser328Thr, NP_001258906.1:p.Ser328Asn, NP_001269235.1:p.Ser254Thr, NP_001269235.1:p.Ser254Asn, NP_001269236.1:p.Ser234Thr, NP_001269236.1:p.Ser234Asn, XP_016858659.1:p.Ser254Thr, XP_016858659.1:p.Ser254Asn, NP_001269237.1:p.Ser234Thr, NP_001269237.1:p.Ser234Asn, NP_001258908.1:p.Ser251Thr, NP_001258908.1:p.Ser251Asn, NP_001258909.1:p.Ser251Thr, NP_001258909.1:p.Ser251Asn, XP_047298881.1:p.Ser254Thr, XP_047298881.1:p.Ser254Asn, NP_001269234.1:p.Ser234Thr, NP_001269234.1:p.Ser234Asn

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