SNP Links for Protein (Select 7019477) - SNP

Links from Protein

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Select item 14856845041.

rs1485684504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74531652 (GRCh38)
2:74758779 (GRCh37)
Canonical SPDI:: NC_000002.12:74531651:C:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74531652C>T, NC_000002.11:g.74758779C>T, NG_033047.1:g.27284G>A, NG_012163.1:g.7248C>T, NM_013247.5:c.995C>T, NM_013247.4:c.995C>T, NM_145074.2:c.800C>T, NR_135769.1:n.1637C>T, NM_001321727.1:c.1025C>T, NM_001321728.1:c.995C>T, NR_135772.1:n.1069C>T, NR_135770.1:n.1065C>T, NR_135771.1:n.1049C>T, NG_033037.1:g.3196G>A, NP_037379.1:p.Ala332Val, NP_659540.1:p.Ala267Val, NP_001308656.1:p.Ala342Val, NP_001308657.1:p.Ala332Val

Select item 14826060792.

rs1482606079 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74530154 (GRCh38)
2:74757281 (GRCh37)
Canonical SPDI:: NC_000002.12:74530153:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74530154G>A, NC_000002.11:g.74757281G>A, NG_012163.1:g.5750G>A, NM_013247.5:c.148G>A, NM_013247.4:c.148G>A, NM_145074.2:c.148G>A, NR_135769.1:n.750G>A, NM_001321727.1:c.148G>A, NM_001321728.1:c.148G>A, NG_033037.1:g.4694C>T, NP_037379.1:p.Val50Met, NP_659540.1:p.Val50Met, NP_001308656.1:p.Val50Met, NP_001308657.1:p.Val50Met

Select item 14818250373.

rs1481825037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74530430 (GRCh38)
2:74757557 (GRCh37)
Canonical SPDI:: NC_000002.12:74530429:T:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530430T>A, NC_000002.11:g.74757557T>A, NG_012163.1:g.6026T>A, NM_013247.5:c.424T>A, NM_013247.4:c.424T>A, NM_145074.2:c.424T>A, NR_135769.1:n.1026T>A, NM_001321727.1:c.424T>A, NM_001321728.1:c.424T>A, NG_033037.1:g.4418A>T, NP_037379.1:p.Ser142Thr, NP_659540.1:p.Ser142Thr, NP_001308656.1:p.Ser142Thr, NP_001308657.1:p.Ser142Thr

Select item 14814511474.

rs1481451147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74530719 (GRCh38)
2:74757846 (GRCh37)
Canonical SPDI:: NC_000002.12:74530718:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530719G>A, NC_000002.11:g.74757846G>A, NG_012163.1:g.6315G>A, NM_013247.5:c.609G>A, NM_013247.4:c.609G>A, NM_145074.2:c.609G>A, NR_135769.1:n.1211G>A, NM_001321727.1:c.609G>A, NM_001321728.1:c.609G>A, NR_135772.1:n.683G>A, NR_135770.1:n.679G>A, NR_135771.1:n.663G>A, NG_033037.1:g.4129C>T

Select item 14813856525.

rs1481385652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74532916 (GRCh38)
2:74760043 (GRCh37)
Canonical SPDI:: NC_000002.12:74532915:G:A,NC_000002.12:74532915:G:T
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.74532916G>A, NC_000002.12:g.74532916G>T, NC_000002.11:g.74760043G>A, NC_000002.11:g.74760043G>T, NG_033047.1:g.26020C>T, NG_033047.1:g.26020C>A, NM_032603.5:c.*690C>T, NM_032603.5:c.*690C>A, NM_032603.4:c.*690C>T, NM_032603.4:c.*690C>A, NM_032603.3:c.*690C>T, NM_032603.3:c.*690C>A, NM_032603.2:c.*690C>T, NM_032603.2:c.*690C>A, NM_001289164.3:c.*690C>T, NM_001289164.3:c.*690C>A, NM_001289164.2:c.*690C>T, NM_001289164.2:c.*690C>A, NM_001289164.1:c.*690C>T, NM_001289164.1:c.*690C>A, NM_001289165.2:c.*690C>T, NM_001289165.2:c.*690C>A, NM_001289165.1:c.*690C>T, NM_001289165.1:c.*690C>A, NG_012163.1:g.8512G>A, NG_012163.1:g.8512G>T, NM_013247.5:c.1308G>A, NM_013247.5:c.1308G>T, NM_013247.4:c.1308G>A, NM_013247.4:c.1308G>T, NM_145074.2:c.1017G>A, NM_145074.2:c.1017G>T, NR_135769.1:n.1950G>A, NR_135769.1:n.1950G>T, NM_001321727.1:c.1242G>A, NM_001321727.1:c.1242G>T, NM_001321728.1:c.1212G>A, NM_001321728.1:c.1212G>T, NR_135772.1:n.1382G>A, NR_135772.1:n.1382G>T, NR_135770.1:n.1378G>A, NR_135770.1:n.1378G>T, NR_135771.1:n.1362G>A, NR_135771.1:n.1362G>T, NG_033037.1:g.1932C>T, NG_033037.1:g.1932C>A, XM_011533134.3:c.*690C>T, XM_011533134.3:c.*690C>A, XM_024453178.2:c.*690C>T, XM_024453178.2:c.*690C>A, XM_024453177.2:c.*690C>T, XM_024453177.2:c.*690C>A, XM_024453176.2:c.*690C>T, XM_024453176.2:c.*690C>A, NP_037379.1:p.Gln436His, NP_659540.1:p.Gln339His, NP_001308656.1:p.Gln414His, NP_001308657.1:p.Gln404His

Select item 14809254696.

rs1480925469 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:74532675 (GRCh38)
2:74759802 (GRCh37)
Canonical SPDI:: NC_000002.12:74532674:T:A
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74532675T>A, NC_000002.11:g.74759802T>A, NG_033047.1:g.26261A>T, NM_032603.5:c.*931A>T, NM_032603.4:c.*931A>T, NM_032603.3:c.*931A>T, NM_001289164.3:c.*931A>T, NM_001289164.2:c.*931A>T, NM_001289164.1:c.*931A>T, NM_001289165.2:c.*931A>T, NM_001289165.1:c.*931A>T, NG_012163.1:g.8271T>A, NM_013247.5:c.1172T>A, NM_013247.4:c.1172T>A, NR_135769.1:n.1814T>A, NR_135772.1:n.1246T>A, NR_135770.1:n.1242T>A, NR_135771.1:n.1226T>A, NG_033037.1:g.2173A>T, XM_011533134.3:c.*931A>T, XM_024453178.2:c.*931A>T, XM_024453177.2:c.*931A>T, XM_024453176.2:c.*931A>T, NP_037379.1:p.Val391Glu

Select item 14751519327.

rs1475151932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74531889 (GRCh38)
2:74759016 (GRCh37)
Canonical SPDI:: NC_000002.12:74531888:G:A
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74531889G>A, NC_000002.11:g.74759016G>A, NG_033047.1:g.27047C>T, NG_012163.1:g.7485G>A, NM_013247.5:c.1079G>A, NM_013247.4:c.1079G>A, NM_145074.2:c.884G>A, NR_135769.1:n.1721G>A, NM_001321727.1:c.1109G>A, NM_001321728.1:c.1079G>A, NR_135772.1:n.1153G>A, NR_135770.1:n.1149G>A, NR_135771.1:n.1133G>A, NG_033037.1:g.2959C>T, NP_037379.1:p.Arg360His, NP_659540.1:p.Arg295His, NP_001308656.1:p.Arg370His, NP_001308657.1:p.Arg360His

Select item 14736994888.

rs1473699488 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74530278 (GRCh38)
2:74757405 (GRCh37)
Canonical SPDI:: NC_000002.12:74530277:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530278G>A, NC_000002.11:g.74757405G>A, NG_012163.1:g.5874G>A, NM_013247.5:c.272G>A, NM_013247.4:c.272G>A, NM_145074.2:c.272G>A, NR_135769.1:n.874G>A, NM_001321727.1:c.272G>A, NM_001321728.1:c.272G>A, NG_033037.1:g.4570C>T, NP_037379.1:p.Arg91Lys, NP_659540.1:p.Arg91Lys, NP_001308656.1:p.Arg91Lys, NP_001308657.1:p.Arg91Lys

Select item 14717816259.

rs1471781625 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74530216 (GRCh38)
2:74757343 (GRCh37)
Canonical SPDI:: NC_000002.12:74530215:A:G
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530216A>G, NC_000002.11:g.74757343A>G, NG_012163.1:g.5812A>G, NM_013247.5:c.210A>G, NM_013247.4:c.210A>G, NM_145074.2:c.210A>G, NR_135769.1:n.812A>G, NM_001321727.1:c.210A>G, NM_001321728.1:c.210A>G, NG_033037.1:g.4632T>C

Select item 147173258710.

rs1471732587 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74530936 (GRCh38)
2:74758063 (GRCh37)
Canonical SPDI:: NC_000002.12:74530935:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530936G>A, NC_000002.11:g.74758063G>A, NG_033047.1:g.28000C>T, NG_012163.1:g.6532G>A, NM_013247.5:c.737G>A, NM_013247.4:c.737G>A, NR_135769.1:n.1339G>A, NM_001321727.1:c.737G>A, NM_001321728.1:c.737G>A, NR_135772.1:n.811G>A, NR_135770.1:n.807G>A, NR_135771.1:n.791G>A, NG_033037.1:g.3912C>T, NP_037379.1:p.Gly246Glu, NP_001308656.1:p.Gly246Glu, NP_001308657.1:p.Gly246Glu

Select item 147131124711.

rs1471311247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:74530394 (GRCh38)
2:74757521 (GRCh37)
Canonical SPDI:: NC_000002.12:74530393:G:A
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000002.12:g.74530394G>A, NC_000002.11:g.74757521G>A, NG_012163.1:g.5990G>A, NM_013247.5:c.388G>A, NM_013247.4:c.388G>A, NM_145074.2:c.388G>A, NR_135769.1:n.990G>A, NM_001321727.1:c.388G>A, NM_001321728.1:c.388G>A, NG_033037.1:g.4454C>T, NP_037379.1:p.Ala130Thr, NP_659540.1:p.Ala130Thr, NP_001308656.1:p.Ala130Thr, NP_001308657.1:p.Ala130Thr

Select item 147021008712.

rs1470210087 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:74531673 (GRCh38)
2:74758800 (GRCh37)
Canonical SPDI:: NC_000002.12:74531672:G:A,NC_000002.12:74531672:G:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74531673G>A, NC_000002.12:g.74531673G>T, NC_000002.11:g.74758800G>A, NC_000002.11:g.74758800G>T, NG_033047.1:g.27263C>T, NG_033047.1:g.27263C>A, NG_012163.1:g.7269G>A, NG_012163.1:g.7269G>T, NM_013247.5:c.1016G>A, NM_013247.5:c.1016G>T, NM_013247.4:c.1016G>A, NM_013247.4:c.1016G>T, NM_145074.2:c.821G>A, NM_145074.2:c.821G>T, NR_135769.1:n.1658G>A, NR_135769.1:n.1658G>T, NM_001321727.1:c.1046G>A, NM_001321727.1:c.1046G>T, NM_001321728.1:c.1016G>A, NM_001321728.1:c.1016G>T, NR_135772.1:n.1090G>A, NR_135772.1:n.1090G>T, NR_135770.1:n.1086G>A, NR_135770.1:n.1086G>T, NR_135771.1:n.1070G>A, NR_135771.1:n.1070G>T, NG_033037.1:g.3175C>T, NG_033037.1:g.3175C>A, NP_037379.1:p.Arg339Gln, NP_037379.1:p.Arg339Leu, NP_659540.1:p.Arg274Gln, NP_659540.1:p.Arg274Leu, NP_001308656.1:p.Arg349Gln, NP_001308656.1:p.Arg349Leu, NP_001308657.1:p.Arg339Gln, NP_001308657.1:p.Arg339Leu

Select item 146797609313.

rs1467976093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74531882 (GRCh38)
2:74759009 (GRCh37)
Canonical SPDI:: NC_000002.12:74531881:C:T
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: stop_gained,500B_downstream_variant,coding_sequence_variant,downstream_transcript_variant,non_coding_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.74531882C>T, NC_000002.11:g.74759009C>T, NG_033047.1:g.27054G>A, NG_012163.1:g.7478C>T, NM_013247.5:c.1072C>T, NM_013247.4:c.1072C>T, NM_145074.2:c.877C>T, NR_135769.1:n.1714C>T, NM_001321727.1:c.1102C>T, NM_001321728.1:c.1072C>T, NR_135772.1:n.1146C>T, NR_135770.1:n.1142C>T, NR_135771.1:n.1126C>T, NG_033037.1:g.2966G>A, NP_037379.1:p.Gln358Ter, NP_659540.1:p.Gln293Ter, NP_001308656.1:p.Gln368Ter, NP_001308657.1:p.Gln358Ter

Select item 146746836914.

rs1467468369 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:74530121 (GRCh38)
2:74757248 (GRCh37)
Canonical SPDI:: NC_000002.12:74530120:C:A,NC_000002.12:74530120:C:G
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000025/6 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530121C>A, NC_000002.12:g.74530121C>G, NC_000002.11:g.74757248C>A, NC_000002.11:g.74757248C>G, NG_012163.1:g.5717C>A, NG_012163.1:g.5717C>G, NM_013247.5:c.115C>A, NM_013247.5:c.115C>G, NM_013247.4:c.115C>A, NM_013247.4:c.115C>G, NM_145074.2:c.115C>A, NM_145074.2:c.115C>G, NR_135769.1:n.717C>A, NR_135769.1:n.717C>G, NM_001321727.1:c.115C>A, NM_001321727.1:c.115C>G, NM_001321728.1:c.115C>A, NM_001321728.1:c.115C>G, NG_033037.1:g.4727G>T, NG_033037.1:g.4727G>C, NP_037379.1:p.Leu39Met, NP_037379.1:p.Leu39Val, NP_659540.1:p.Leu39Met, NP_659540.1:p.Leu39Val, NP_001308656.1:p.Leu39Met, NP_001308656.1:p.Leu39Val, NP_001308657.1:p.Leu39Met, NP_001308657.1:p.Leu39Val

Select item 146478273315.

rs1464782733 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:74530678 (GRCh38)
2:74757805 (GRCh37)
Canonical SPDI:: NC_000002.12:74530677:G:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.74530678G>T, NC_000002.11:g.74757805G>T, NG_012163.1:g.6274G>T, NM_013247.5:c.568G>T, NM_013247.4:c.568G>T, NM_145074.2:c.568G>T, NR_135769.1:n.1170G>T, NM_001321727.1:c.568G>T, NM_001321728.1:c.568G>T, NR_135772.1:n.642G>T, NR_135770.1:n.638G>T, NR_135771.1:n.622G>T, NG_033037.1:g.4170C>A, NP_037379.1:p.Asp190Tyr, NP_659540.1:p.Asp190Tyr, NP_001308656.1:p.Asp190Tyr, NP_001308657.1:p.Asp190Tyr

Select item 146212609916.

rs1462126099 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:74531067 (GRCh38)
2:74758194 (GRCh37)
Canonical SPDI:: NC_000002.12:74531066:A:C
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74531067A>C, NC_000002.11:g.74758194A>C, NG_033047.1:g.27869T>G, NG_012163.1:g.6663A>C, NM_013247.5:c.868A>C, NM_013247.4:c.868A>C, NR_135769.1:n.1470A>C, NM_001321727.1:c.868A>C, NM_001321728.1:c.868A>C, NR_135772.1:n.942A>C, NR_135770.1:n.938A>C, NR_135771.1:n.922A>C, NG_033037.1:g.3781T>G, NP_037379.1:p.Thr290Pro, NP_001308656.1:p.Thr290Pro, NP_001308657.1:p.Thr290Pro

Select item 146058860517.

rs1460588605 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74531349 (GRCh38)
2:74758476 (GRCh37)
Canonical SPDI:: NC_000002.12:74531348:C:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant,non_coding_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.74531349C>T, NC_000002.11:g.74758476C>T, NG_033047.1:g.27587G>A, NG_012163.1:g.6945C>T, NM_013247.5:c.917C>T, NM_013247.4:c.917C>T, NM_145074.2:c.722C>T, NR_135769.1:n.1519C>T, NM_001321727.1:c.917C>T, NM_001321728.1:c.917C>T, NR_135772.1:n.991C>T, NR_135770.1:n.987C>T, NR_135771.1:n.971C>T, NG_033037.1:g.3499G>A, NP_037379.1:p.Ser306Phe, NP_659540.1:p.Ser241Phe, NP_001308656.1:p.Ser306Phe, NP_001308657.1:p.Ser306Phe

Select item 146044544018.

rs1460445440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:74532958 (GRCh38)
2:74760085 (GRCh37)
Canonical SPDI:: NC_000002.12:74532957:A:G
Gene:: HTRA2 (Varview), LOXL3 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74532958A>G, NC_000002.11:g.74760085A>G, NG_033047.1:g.25978T>C, NM_032603.5:c.*648T>C, NM_032603.4:c.*648T>C, NM_032603.3:c.*648T>C, NM_032603.2:c.*648T>C, NM_001289164.3:c.*648T>C, NM_001289164.2:c.*648T>C, NM_001289164.1:c.*648T>C, NM_001289165.2:c.*648T>C, NM_001289165.1:c.*648T>C, NG_012163.1:g.8554A>G, NM_013247.5:c.1350A>G, NM_013247.4:c.1350A>G, NM_145074.2:c.1059A>G, NR_135769.1:n.1992A>G, NM_001321727.1:c.1284A>G, NM_001321728.1:c.1254A>G, NR_135772.1:n.1424A>G, NR_135770.1:n.1420A>G, NR_135771.1:n.1404A>G, NG_033037.1:g.1890T>C, XM_011533134.3:c.*648T>C, XM_024453178.2:c.*648T>C, XM_024453177.2:c.*648T>C, XM_024453176.2:c.*648T>C

Select item 145974647219.

rs1459746472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:74530144 (GRCh38)
2:74757271 (GRCh37)
Canonical SPDI:: NC_000002.12:74530143:C:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.74530144C>T, NC_000002.11:g.74757271C>T, NG_012163.1:g.5740C>T, NM_013247.5:c.138C>T, NM_013247.4:c.138C>T, NM_145074.2:c.138C>T, NR_135769.1:n.740C>T, NM_001321727.1:c.138C>T, NM_001321728.1:c.138C>T, NG_033037.1:g.4704G>A

Select item 145781893820.

rs1457818938 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:74530141 (GRCh38)
2:74757268 (GRCh37)
Canonical SPDI:: NC_000002.12:74530140:C:A,NC_000002.12:74530140:C:T
Gene:: AUP1 (Varview), HTRA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,intron_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.74530141C>A, NC_000002.12:g.74530141C>T, NC_000002.11:g.74757268C>A, NC_000002.11:g.74757268C>T, NG_012163.1:g.5737C>A, NG_012163.1:g.5737C>T, NM_013247.5:c.135C>A, NM_013247.5:c.135C>T, NM_013247.4:c.135C>A, NM_013247.4:c.135C>T, NM_145074.2:c.135C>A, NM_145074.2:c.135C>T, NR_135769.1:n.737C>A, NR_135769.1:n.737C>T, NM_001321727.1:c.135C>A, NM_001321727.1:c.135C>T, NM_001321728.1:c.135C>A, NM_001321728.1:c.135C>T, NG_033037.1:g.4707G>T, NG_033037.1:g.4707G>A, NP_037379.1:p.Asp45Glu, NP_659540.1:p.Asp45Glu, NP_001308656.1:p.Asp45Glu, NP_001308657.1:p.Asp45Glu

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