SNP Links for Protein (Select 1034633458) - SNP

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Links from Protein

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Select item 14880265241.

rs1488026524 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49687004 (GRCh38)
3:49724437 (GRCh37)
Canonical SPDI:: NC_000003.12:49687003:C:T
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49687004C>T, NC_000003.11:g.49724437C>T, NG_011603.1:g.2448C>T, NG_016454.1:g.6760G>A, NM_020998.4:c.671G>A, NM_020998.3:c.671G>A, NR_146060.2:n.1454G>A, NR_146060.1:n.743G>A, NM_001393581.1:c.671G>A, NM_001393582.1:c.671G>A, NM_001393583.1:c.671G>A, NM_001393584.1:c.671G>A, NM_001393585.1:c.671G>A, XM_011533738.4:c.671G>A, XM_011533738.3:c.671G>A, XM_011533738.2:c.671G>A, XM_011533738.1:c.671G>A, XM_017006460.3:c.671G>A, XM_017006460.2:c.671G>A, XM_017006460.1:c.671G>A, XM_047448158.1:c.671G>A, XM_047448159.1:c.671G>A, XM_047448160.1:c.671G>A, XM_047448161.1:c.671G>A, NP_066278.3:p.Arg224His, NP_001380510.1:p.Arg224His, NP_001380511.1:p.Arg224His, NP_001380512.1:p.Arg224His, NP_001380513.1:p.Arg224His, NP_001380514.1:p.Arg224His, XP_011532040.1:p.Arg224His, XP_016861949.1:p.Arg224His, XP_047304114.1:p.Arg224His, XP_047304115.1:p.Arg224His, XP_047304116.1:p.Arg224His, XP_047304117.1:p.Arg224His

Select item 14868076572.

rs1486807657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49686062 (GRCh38)
3:49723495 (GRCh37)
Canonical SPDI:: NC_000003.12:49686061:C:T
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49686062C>T, NC_000003.11:g.49723495C>T, NG_011603.1:g.1506C>T, NG_016454.1:g.7702G>A, NM_020998.4:c.1147G>A, NM_020998.3:c.1147G>A, NR_146060.2:n.1930G>A, NR_146060.1:n.1219G>A, NM_001393581.1:c.1143G>A, NM_001393582.1:c.1147G>A, XM_011533738.4:c.1147G>A, XM_011533738.3:c.1147G>A, XM_011533738.2:c.1147G>A, XM_011533738.1:c.1147G>A, XM_017006460.3:c.1143G>A, XM_017006460.2:c.1143G>A, XM_017006460.1:c.1143G>A, XM_047448158.1:c.1147G>A, XM_047448160.1:c.1147G>A, NP_066278.3:p.Asp383Asn, NP_001380511.1:p.Asp383Asn, XP_011532040.1:p.Asp383Asn, XP_047304114.1:p.Asp383Asn, XP_047304116.1:p.Asp383Asn

Select item 14863455133.

rs1486345513 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49687448 (GRCh38)
3:49724881 (GRCh37)
Canonical SPDI:: NC_000003.12:49687447:C:G
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.49687448C>G, NC_000003.11:g.49724881C>G, NG_011603.1:g.2892C>G, NG_016454.1:g.6316G>C, NM_020998.4:c.386G>C, NM_020998.3:c.386G>C, NR_146060.2:n.1169G>C, NR_146060.1:n.458G>C, NM_001393581.1:c.386G>C, NM_001393582.1:c.386G>C, NM_001393583.1:c.386G>C, NM_001393584.1:c.386G>C, NM_001393585.1:c.386G>C, XM_011533738.4:c.386G>C, XM_011533738.3:c.386G>C, XM_011533738.2:c.386G>C, XM_011533738.1:c.386G>C, XM_017006460.3:c.386G>C, XM_017006460.2:c.386G>C, XM_017006460.1:c.386G>C, XM_047448158.1:c.386G>C, XM_047448159.1:c.386G>C, XM_047448160.1:c.386G>C, XM_047448161.1:c.386G>C, NP_066278.3:p.Gly129Ala, NP_001380510.1:p.Gly129Ala, NP_001380511.1:p.Gly129Ala, NP_001380512.1:p.Gly129Ala, NP_001380513.1:p.Gly129Ala, NP_001380514.1:p.Gly129Ala, XP_011532040.1:p.Gly129Ala, XP_016861949.1:p.Gly129Ala, XP_047304114.1:p.Gly129Ala, XP_047304115.1:p.Gly129Ala, XP_047304116.1:p.Gly129Ala, XP_047304117.1:p.Gly129Ala

Select item 14848178644.

rs1484817864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49685033 (GRCh38)
3:49722466 (GRCh37)
Canonical SPDI:: NC_000003.12:49685032:G:A
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,missense_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.49685033G>A, NC_000003.11:g.49722466G>A, NG_011603.1:g.477G>A, NG_011438.1:g.16032G>A, NG_016454.1:g.8731C>T, NM_020998.4:c.1601C>T, NM_020998.3:c.1601C>T, NM_001393581.1:c.1637C>T, NM_001393582.1:c.1601C>T, NM_001393583.1:c.1511C>T, NM_001393584.1:c.1466C>T, NM_001393585.1:c.1301C>T, XM_017006460.3:c.1637C>T, XM_017006460.2:c.1637C>T, XM_017006460.1:c.1637C>T, XM_047448158.1:c.1601C>T, XM_047448159.1:c.1466C>T, XM_047448160.1:c.1601C>T, NP_066278.3:p.Ala534Val, NP_001380510.1:p.Ala546Val, NP_001380511.1:p.Ala534Val, NP_001380512.1:p.Ala504Val, NP_001380513.1:p.Ala489Val, NP_001380514.1:p.Ala434Val, XP_016861949.1:p.Ala546Val, XP_047304114.1:p.Ala534Val, XP_047304115.1:p.Ala489Val, XP_047304116.1:p.Ala534Val

Select item 14835740025.

rs1483574002 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49686450 (GRCh38)
3:49723883 (GRCh37)
Canonical SPDI:: NC_000003.12:49686449:T:C
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49686450T>C, NC_000003.11:g.49723883T>C, NG_011603.1:g.1894T>C, NG_016454.1:g.7314A>G, NM_020998.4:c.879A>G, NM_020998.3:c.879A>G, NR_146060.2:n.1662A>G, NR_146060.1:n.951A>G, NM_001393581.1:c.875A>G, NM_001393582.1:c.879A>G, NM_001393583.1:c.875A>G, NM_001393584.1:c.875A>G, XM_011533738.4:c.879A>G, XM_011533738.3:c.879A>G, XM_011533738.2:c.879A>G, XM_011533738.1:c.879A>G, XM_017006460.3:c.875A>G, XM_017006460.2:c.875A>G, XM_017006460.1:c.875A>G, XM_047448158.1:c.879A>G, XM_047448159.1:c.875A>G, XM_047448160.1:c.879A>G, XM_047448161.1:c.879A>G, NP_001380510.1:p.Gln292Arg, NP_001380512.1:p.Gln292Arg, NP_001380513.1:p.Gln292Arg, XP_016861949.1:p.Gln292Arg, XP_047304115.1:p.Gln292Arg

Select item 14822199106.

rs1482219910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49687893 (GRCh38)
3:49725326 (GRCh37)
Canonical SPDI:: NC_000003.12:49687892:C:G
Gene:: MST1 (Varview), RNF123 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49687893C>G, NC_000003.11:g.49725326C>G, NG_011603.1:g.3337C>G, NG_016454.1:g.5871G>C, NM_020998.4:c.99G>C, NM_020998.3:c.99G>C, NR_146060.2:n.882G>C, NR_146060.1:n.171G>C, NM_001393581.1:c.99G>C, NM_001393582.1:c.99G>C, NM_001393583.1:c.99G>C, NM_001393584.1:c.99G>C, NM_001393585.1:c.99G>C, XM_011533738.4:c.99G>C, XM_011533738.3:c.99G>C, XM_011533738.2:c.99G>C, XM_011533738.1:c.99G>C, XM_017006460.3:c.99G>C, XM_017006460.2:c.99G>C, XM_017006460.1:c.99G>C, XM_047448158.1:c.99G>C, XM_047448159.1:c.99G>C, XM_047448160.1:c.99G>C, XM_047448161.1:c.99G>C, NP_066278.3:p.Gln33His, NP_001380510.1:p.Gln33His, NP_001380511.1:p.Gln33His, NP_001380512.1:p.Gln33His, NP_001380513.1:p.Gln33His, NP_001380514.1:p.Gln33His, XP_011532040.1:p.Gln33His, XP_016861949.1:p.Gln33His, XP_047304114.1:p.Gln33His, XP_047304115.1:p.Gln33His, XP_047304116.1:p.Gln33His, XP_047304117.1:p.Gln33His

Select item 14815157947.

rs1481515794 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:49685878 (GRCh38)
3:49723312 (GRCh37)
Canonical SPDI:: NC_000003.12:49685878:C:CC
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_lost,terminator_codon_variant,frameshift_variant
HGVS:: NC_000003.12:g.49685879dup, NC_000003.11:g.49723312dup, NG_011603.1:g.1323dup, NG_016454.1:g.7885dup, NM_020998.4:c.1231dup, NM_020998.3:c.1231dup, NR_146060.2:n.2014dup, NR_146060.1:n.1303dup, NM_001393581.1:c.1227dup, NM_001393582.1:c.1231dup, NM_001393583.1:c.1101dup, NM_001393584.1:c.1096dup, NM_001393585.1:c.931dup, XM_011533738.4:c.1231dup, XM_011533738.3:c.1231dup, XM_011533738.2:c.1231dup, XM_011533738.1:c.1231dup, XM_017006460.3:c.1227dup, XM_017006460.2:c.1227dup, XM_017006460.1:c.1227dup, XM_047448158.1:c.1231dup, XM_047448159.1:c.1096dup, XM_047448160.1:c.1231dup, XM_047448161.1:c.1100dup, NP_066278.3:p.Glu411fs, NP_001380510.1:p.Arg410fs, NP_001380511.1:p.Glu411fs, NP_001380512.1:p.Arg368fs, NP_001380513.1:p.Glu366fs, NP_001380514.1:p.Glu311fs, XP_011532040.1:p.Glu411fs, XP_016861949.1:p.Arg410fs, XP_047304114.1:p.Glu411fs, XP_047304115.1:p.Glu366fs, XP_047304116.1:p.Glu411fs, XP_047304117.1:p.Ter367TrpextTer?

Select item 14813051058.

rs1481305105 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49684555 (GRCh38)
3:49721988 (GRCh37)
Canonical SPDI:: NC_000003.12:49684554:G:A
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.49684555G>A, NC_000003.11:g.49721988G>A, NG_011438.1:g.15554G>A, NG_016454.1:g.9209C>T, NM_020998.4:c.1871C>T, NM_020998.3:c.1871C>T, NM_001393581.1:c.1907C>T, NM_001393582.1:c.1871C>T, NM_001393583.1:c.1781C>T, NM_001393584.1:c.1736C>T, NM_001393585.1:c.1571C>T, XM_017006460.3:c.1907C>T, XM_017006460.2:c.1907C>T, XM_017006460.1:c.1907C>T, NP_066278.3:p.Thr624Ile, NP_001380510.1:p.Thr636Ile, NP_001380511.1:p.Thr624Ile, NP_001380512.1:p.Thr594Ile, NP_001380513.1:p.Thr579Ile, NP_001380514.1:p.Thr524Ile, XP_016861949.1:p.Thr636Ile

Select item 14798781209.

rs1479878120 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49685673 (GRCh38)
3:49723106 (GRCh37)
Canonical SPDI:: NC_000003.12:49685672:T:C
Gene:: MST1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49685673T>C, NC_000003.11:g.49723106T>C, NG_011603.1:g.1117T>C, NG_016454.1:g.8091A>G, NM_020998.4:c.1310A>G, NM_020998.3:c.1310A>G, NR_146060.2:n.2093A>G, NR_146060.1:n.1382A>G, NM_001393581.1:c.1306A>G, NM_001393582.1:c.1310A>G, NM_001393583.1:c.1180A>G, NM_001393584.1:c.1175A>G, NM_001393585.1:c.1010A>G, XM_011533738.4:c.1310A>G, XM_011533738.3:c.1310A>G, XM_011533738.2:c.1310A>G, XM_011533738.1:c.1310A>G, XM_017006460.3:c.1306A>G, XM_017006460.2:c.1306A>G, XM_017006460.1:c.1306A>G, XM_047448158.1:c.1310A>G, XM_047448159.1:c.1175A>G, XM_047448160.1:c.1310A>G, XM_047448161.1:c.*78A>G, NP_066278.3:p.Asp437Gly, NP_001380510.1:p.Met436Val, NP_001380511.1:p.Asp437Gly, NP_001380512.1:p.Met394Val, NP_001380513.1:p.Asp392Gly, NP_001380514.1:p.Asp337Gly, XP_011532040.1:p.Asp437Gly, XP_016861949.1:p.Met436Val, XP_047304114.1:p.Asp437Gly, XP_047304115.1:p.Asp392Gly, XP_047304116.1:p.Asp437Gly

Select item 147853642810.

rs1478536428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49686464 (GRCh38)
3:49723897 (GRCh37)
Canonical SPDI:: NC_000003.12:49686463:G:A
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
HGVS:: NC_000003.12:g.49686464G>A, NC_000003.11:g.49723897G>A, NG_011603.1:g.1908G>A, NG_016454.1:g.7300C>T, NM_020998.4:c.865C>T, NM_020998.3:c.865C>T, NR_146060.2:n.1648C>T, NR_146060.1:n.937C>T, NM_001393581.1:c.861C>T, NM_001393582.1:c.865C>T, NM_001393583.1:c.861C>T, NM_001393584.1:c.861C>T, XM_011533738.4:c.865C>T, XM_011533738.3:c.865C>T, XM_011533738.2:c.865C>T, XM_011533738.1:c.865C>T, XM_017006460.3:c.861C>T, XM_017006460.2:c.861C>T, XM_017006460.1:c.861C>T, XM_047448158.1:c.865C>T, XM_047448159.1:c.861C>T, XM_047448160.1:c.865C>T, XM_047448161.1:c.865C>T, NP_066278.3:p.Arg289Cys, NP_001380511.1:p.Arg289Cys, XP_011532040.1:p.Arg289Cys, XP_047304114.1:p.Arg289Cys, XP_047304116.1:p.Arg289Cys, XP_047304117.1:p.Arg289Cys

Select item 147847044511.

rs1478470445 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49688688 (GRCh38)
3:49726121 (GRCh37)
Canonical SPDI:: NC_000003.12:49688687:C:G
Gene:: MST1 (Varview), RNF123 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49688688C>G, NC_000003.11:g.49726121C>G, NG_011603.1:g.4132C>G, NG_016454.1:g.5076G>C, NM_020998.4:c.4G>C, NM_020998.3:c.4G>C, NR_146060.2:n.787G>C, NR_146060.1:n.76G>C, NM_001393581.1:c.4G>C, NM_001393582.1:c.4G>C, NM_001393583.1:c.4G>C, NM_001393584.1:c.4G>C, NM_001393585.1:c.4G>C, XM_011533738.4:c.4G>C, XM_011533738.3:c.4G>C, XM_011533738.2:c.4G>C, XM_011533738.1:c.4G>C, XM_017006460.3:c.4G>C, XM_017006460.2:c.4G>C, XM_017006460.1:c.4G>C, XM_047448158.1:c.4G>C, XM_047448159.1:c.4G>C, XM_047448160.1:c.4G>C, XM_047448161.1:c.4G>C, NP_066278.3:p.Gly2Arg, NP_001380510.1:p.Gly2Arg, NP_001380511.1:p.Gly2Arg, NP_001380512.1:p.Gly2Arg, NP_001380513.1:p.Gly2Arg, NP_001380514.1:p.Gly2Arg, XP_011532040.1:p.Gly2Arg, XP_016861949.1:p.Gly2Arg, XP_047304114.1:p.Gly2Arg, XP_047304115.1:p.Gly2Arg, XP_047304116.1:p.Gly2Arg, XP_047304117.1:p.Gly2Arg

Select item 147798616612.

rs1477986166 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:49686788 (GRCh38)
3:49724221 (GRCh37)
Canonical SPDI:: NC_000003.12:49686787:C:G
Gene:: MST1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000003.12:g.49686788C>G, NC_000003.11:g.49724221C>G, NG_011603.1:g.2232C>G, NG_016454.1:g.6976G>C, NM_020998.4:c.743G>C, NM_020998.3:c.743G>C, NR_146060.2:n.1526G>C, NR_146060.1:n.815G>C, NM_001393581.1:c.739G>C, NM_001393582.1:c.743G>C, NM_001393583.1:c.739G>C, NM_001393584.1:c.739G>C, NM_001393585.1:c.743G>C, XM_011533738.4:c.743G>C, XM_011533738.3:c.743G>C, XM_011533738.2:c.743G>C, XM_011533738.1:c.743G>C, XM_017006460.3:c.739G>C, XM_017006460.2:c.739G>C, XM_017006460.1:c.739G>C, XM_047448158.1:c.743G>C, XM_047448159.1:c.739G>C, XM_047448160.1:c.743G>C, XM_047448161.1:c.743G>C, NP_066278.3:p.Gly248Ala, NP_001380510.1:p.Val247Leu, NP_001380511.1:p.Gly248Ala, NP_001380512.1:p.Val247Leu, NP_001380513.1:p.Val247Leu, NP_001380514.1:p.Gly248Ala, XP_011532040.1:p.Gly248Ala, XP_016861949.1:p.Val247Leu, XP_047304114.1:p.Gly248Ala, XP_047304115.1:p.Val247Leu, XP_047304116.1:p.Gly248Ala, XP_047304117.1:p.Gly248Ala

Select item 147762055913.

rs1477620559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:49684417 (GRCh38)
3:49721850 (GRCh37)
Canonical SPDI:: NC_000003.12:49684416:A:G
Gene:: APEH (Varview), MST1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49684417A>G, NC_000003.11:g.49721850A>G, NG_011438.1:g.15416A>G, NG_016454.1:g.9347T>C, NM_020998.4:c.1913T>C, NM_020998.3:c.1913T>C, NM_001393581.1:c.1949T>C, NM_001393582.1:c.1913T>C, NM_001393583.1:c.1823T>C, NM_001393584.1:c.1778T>C, NM_001393585.1:c.1613T>C, XM_017006460.3:c.1949T>C, XM_017006460.2:c.1949T>C, XM_017006460.1:c.1949T>C, NP_066278.3:p.Leu638Pro, NP_001380510.1:p.Leu650Pro, NP_001380511.1:p.Leu638Pro, NP_001380512.1:p.Leu608Pro, NP_001380513.1:p.Leu593Pro, NP_001380514.1:p.Leu538Pro, XP_016861949.1:p.Leu650Pro

Select item 147739902714.

rs1477399027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49687366 (GRCh38)
3:49724799 (GRCh37)
Canonical SPDI:: NC_000003.12:49687365:G:A
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.49687366G>A, NC_000003.11:g.49724799G>A, NG_011603.1:g.2810G>A, NG_016454.1:g.6398C>T, NM_020998.4:c.468C>T, NM_020998.3:c.468C>T, NR_146060.2:n.1251C>T, NR_146060.1:n.540C>T, NM_001393581.1:c.468C>T, NM_001393582.1:c.468C>T, NM_001393583.1:c.468C>T, NM_001393584.1:c.468C>T, NM_001393585.1:c.468C>T, XM_011533738.4:c.468C>T, XM_011533738.3:c.468C>T, XM_011533738.2:c.468C>T, XM_011533738.1:c.468C>T, XM_017006460.3:c.468C>T, XM_017006460.2:c.468C>T, XM_017006460.1:c.468C>T, XM_047448158.1:c.468C>T, XM_047448159.1:c.468C>T, XM_047448160.1:c.468C>T, XM_047448161.1:c.468C>T

Select item 147730547115.

rs1477305471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:49687851 (GRCh38)
3:49725284 (GRCh37)
Canonical SPDI:: NC_000003.12:49687850:C:T
Gene:: MST1 (Varview), RNF123 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000685/2 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000003.12:g.49687851C>T, NC_000003.11:g.49725284C>T, NG_011603.1:g.3295C>T, NG_016454.1:g.5913G>A, NM_020998.4:c.141G>A, NM_020998.3:c.141G>A, NR_146060.2:n.924G>A, NR_146060.1:n.213G>A, NM_001393581.1:c.141G>A, NM_001393582.1:c.141G>A, NM_001393583.1:c.141G>A, NM_001393584.1:c.141G>A, NM_001393585.1:c.141G>A, XM_011533738.4:c.141G>A, XM_011533738.3:c.141G>A, XM_011533738.2:c.141G>A, XM_011533738.1:c.141G>A, XM_017006460.3:c.141G>A, XM_017006460.2:c.141G>A, XM_017006460.1:c.141G>A, XM_047448158.1:c.141G>A, XM_047448159.1:c.141G>A, XM_047448160.1:c.141G>A, XM_047448161.1:c.141G>A

Select item 147693832016.

rs1476938320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49686313 (GRCh38)
3:49723746 (GRCh37)
Canonical SPDI:: NC_000003.12:49686312:T:C
Gene:: MST1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
HGVS:: NC_000003.12:g.49686313T>C, NC_000003.11:g.49723746T>C, NG_011603.1:g.1757T>C, NG_016454.1:g.7451A>G, NM_020998.4:c.1016A>G, NM_020998.3:c.1016A>G, NR_146060.2:n.1799A>G, NR_146060.1:n.1088A>G, NM_001393581.1:c.1012A>G, NM_001393582.1:c.1016A>G, NM_001393583.1:c.1012A>G, NM_001393584.1:c.1012A>G, XM_011533738.4:c.1016A>G, XM_011533738.3:c.1016A>G, XM_011533738.2:c.1016A>G, XM_011533738.1:c.1016A>G, XM_017006460.3:c.1012A>G, XM_017006460.2:c.1012A>G, XM_017006460.1:c.1012A>G, XM_047448158.1:c.1016A>G, XM_047448159.1:c.1012A>G, XM_047448160.1:c.1016A>G, XM_047448161.1:c.1016A>G, NP_066278.3:p.Lys339Arg, NP_001380510.1:p.Lys338Glu, NP_001380511.1:p.Lys339Arg, NP_001380512.1:p.Ser338Gly, NP_001380513.1:p.Asn338Asp, XP_011532040.1:p.Lys339Arg, XP_016861949.1:p.Lys338Glu, XP_047304114.1:p.Lys339Arg, XP_047304115.1:p.Asn338Asp, XP_047304116.1:p.Lys339Arg, XP_047304117.1:p.Lys339Arg

Select item 147681481817.

rs1476814818 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49688631 (GRCh38)
3:49726064 (GRCh37)
Canonical SPDI:: NC_000003.12:49688630:G:A
Gene:: MST1 (Varview), RNF123 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.49688631G>A, NC_000003.11:g.49726064G>A, NG_011603.1:g.4075G>A, NG_016454.1:g.5133C>T, NM_020998.4:c.61C>T, NM_020998.3:c.61C>T, NR_146060.2:n.844C>T, NR_146060.1:n.133C>T, NM_001393581.1:c.61C>T, NM_001393582.1:c.61C>T, NM_001393583.1:c.61C>T, NM_001393584.1:c.61C>T, NM_001393585.1:c.61C>T, XM_011533738.4:c.61C>T, XM_011533738.3:c.61C>T, XM_011533738.2:c.61C>T, XM_011533738.1:c.61C>T, XM_017006460.3:c.61C>T, XM_017006460.2:c.61C>T, XM_017006460.1:c.61C>T, XM_047448158.1:c.61C>T, XM_047448159.1:c.61C>T, XM_047448160.1:c.61C>T, XM_047448161.1:c.61C>T

Select item 147606568218.

rs1476065682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:49685284 (GRCh38)
3:49722717 (GRCh37)
Canonical SPDI:: NC_000003.12:49685283:A:T
Gene:: MST1 (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.49685284A>T, NC_000003.11:g.49722717A>T, NG_011603.1:g.728A>T, NG_011438.1:g.16283A>T, NG_016454.1:g.8480T>A, NM_020998.4:c.1522T>A, NM_020998.3:c.1522T>A, NR_146060.2:n.2305T>A, NR_146060.1:n.1594T>A, NM_001393581.1:c.1518T>A, NM_001393582.1:c.1522T>A, NM_001393583.1:c.1392T>A, NM_001393584.1:c.1387T>A, NM_001393585.1:c.1222T>A, XM_011533738.4:c.1522T>A, XM_011533738.3:c.1522T>A, XM_011533738.2:c.1522T>A, XM_011533738.1:c.1522T>A, XM_017006460.3:c.1518T>A, XM_017006460.2:c.1518T>A, XM_017006460.1:c.1518T>A, XM_047448158.1:c.1522T>A, XM_047448159.1:c.1387T>A, XM_047448160.1:c.1522T>A, NP_066278.3:p.Trp508Arg, NP_001380511.1:p.Trp508Arg, NP_001380513.1:p.Trp463Arg, NP_001380514.1:p.Trp408Arg, XP_011532040.1:p.Trp508Arg, XP_047304114.1:p.Trp508Arg, XP_047304115.1:p.Trp463Arg, XP_047304116.1:p.Trp508Arg

Select item 147599332519.

rs1475993325 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:49687561 (GRCh38)
3:49724994 (GRCh37)
Canonical SPDI:: NC_000003.12:49687560:T:C
Gene:: MST1 (Varview), RNF123 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,missense_variant,2KB_upstream_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_000003.12:g.49687561T>C, NC_000003.11:g.49724994T>C, NG_011603.1:g.3005T>C, NG_016454.1:g.6203A>G, NM_020998.4:c.350A>G, NM_020998.3:c.350A>G, NR_146060.2:n.1133A>G, NR_146060.1:n.422A>G, NM_001393581.1:c.350A>G, NM_001393582.1:c.350A>G, NM_001393583.1:c.350A>G, NM_001393584.1:c.350A>G, NM_001393585.1:c.350A>G, XM_011533738.4:c.350A>G, XM_011533738.3:c.350A>G, XM_011533738.2:c.350A>G, XM_011533738.1:c.350A>G, XM_017006460.3:c.350A>G, XM_017006460.2:c.350A>G, XM_017006460.1:c.350A>G, XM_047448158.1:c.350A>G, XM_047448159.1:c.350A>G, XM_047448160.1:c.350A>G, XM_047448161.1:c.350A>G, NP_066278.3:p.Lys117Arg, NP_001380510.1:p.Lys117Arg, NP_001380511.1:p.Lys117Arg, NP_001380512.1:p.Lys117Arg, NP_001380513.1:p.Lys117Arg, NP_001380514.1:p.Lys117Arg, XP_011532040.1:p.Lys117Arg, XP_016861949.1:p.Lys117Arg, XP_047304114.1:p.Lys117Arg, XP_047304115.1:p.Lys117Arg, XP_047304116.1:p.Lys117Arg, XP_047304117.1:p.Lys117Arg

Select item 147493927920.

rs1474939279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:49686781 (GRCh38)
3:49724214 (GRCh37)
Canonical SPDI:: NC_000003.12:49686780:G:A
Gene:: MST1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00014/2 (TOMMO)
HGVS:: NC_000003.12:g.49686781G>A, NC_000003.11:g.49724214G>A, NG_011603.1:g.2225G>A, NG_016454.1:g.6983C>T, NM_020998.4:c.750C>T, NM_020998.3:c.750C>T, NR_146060.2:n.1533C>T, NR_146060.1:n.822C>T, NM_001393581.1:c.746C>T, NM_001393582.1:c.750C>T, NM_001393583.1:c.746C>T, NM_001393584.1:c.746C>T, NM_001393585.1:c.750C>T, XM_011533738.4:c.750C>T, XM_011533738.3:c.750C>T, XM_011533738.2:c.750C>T, XM_011533738.1:c.750C>T, XM_017006460.3:c.746C>T, XM_017006460.2:c.746C>T, XM_017006460.1:c.746C>T, XM_047448158.1:c.750C>T, XM_047448159.1:c.746C>T, XM_047448160.1:c.750C>T, XM_047448161.1:c.750C>T, NP_001380510.1:p.Thr249Met, NP_001380512.1:p.Thr249Met, NP_001380513.1:p.Thr249Met, XP_016861949.1:p.Thr249Met, XP_047304115.1:p.Thr249Met

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