Linked Data
ClinVar Variation Id:
187280
dbSNP Id:
rs747993448
ExAC:
1:45798467 G / A
gnomAD v2:
1-45798467-G-A
gnomAD v3:
1-45332795-G-A
gnomAD v4:
1-45332795-G-A
COSMIC:
COSM5509691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332795G>A , CM000663.2:g.45332795G>A | GRCh38 |
| NC_000001.10:g.45798467G>A , CM000663.1:g.45798467G>A | GRCh37 |
| NC_000001.9:g.45571054G>A | NCBI36 |
| NG_008189.1:g.12676C>T , LRG_220:g.12676C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.76C>T | ENSP00000410263.2:p.Arg26Cys | |
| ENST00000435155.2:c.493C>T | ENSP00000403655.2:p.Arg165Cys | |
| ENST00000467459.6:c.460C>T | ENSP00000435889.2:p.Arg154Cys | |
| ENST00000483127.2:c.478C>T | ENSP00000436469.2:p.Arg160Cys | |
| ENST00000485271.6:c.460C>T | ENSP00000431264.2:p.Arg154Cys | |
| ENST00000529892.6:c.502C>T | ENSP00000432528.2:p.Arg168Cys | |
| ENST00000533178.6:c.116-108C>T | ENSP00000436430.2:n.116-108C>T | |
| ENST00000672314.2:c.460C>T | ENSP00000500828.2:p.Arg154Cys | |
| ENST00000674679.2:c.*372C>T | ENSP00000501623.2:n.*372C>T | |
| ENST00000710952.2:c.544C>T MANE Plus Clinical | ENSP00000518552.2:p.Arg182Cys | |
| ENST00000672818.3:c.535C>T | ENSP00000500891.1:p.Arg179Cys | |
| ENST00000450313.6:c.470C>T | ENSP00000408176.2:p.Ser157Leu | |
| ENST00000456914.7:c.460C>T MANE Select | ENSP00000407590.2:p.Arg154Cys | |
| ENST00000461495.6:c.*199C>T | ENSP00000437166.1:n.*199C>T | |
| ENST00000671856.1:n.406C>T | ||
| ENST00000671898.1:c.1048C>T | ENSP00000499896.1:p.Arg350Cys | |
| ENST00000672011.1:c.428C>T | ENSP00000500418.1:p.Ser143Leu | |
| ENST00000672314.1:c.460C>T | ENSP00000500828.1:p.Arg154Cys | |
| ENST00000672593.1:c.*273C>T | ENSP00000500455.1:n.*273C>T | |
| ENST00000672764.1:c.419C>T | ENSP00000500886.1:p.Ser140Leu | |
| ENST00000672818.2:c.535C>T | ENSP00000500891.1:p.Arg179Cys | |
| ENST00000673134.1:c.*157C>T | ENSP00000500526.1:n.*157C>T | |
| ENST00000674679.1:c.488C>T | ENSP00000501623.1:n.488C>T | |
| ENST00000354383.10:c.463C>T | ENSP00000346354.6:p.Arg155Cys | |
| ENST00000355498.6:c.460C>T | ENSP00000347685.2:p.Arg154Cys | |
| ENST00000372098.7:c.535C>T | ENSP00000361170.3:p.Arg179Cys | |
| ENST00000372104.5:c.460C>T | ENSP00000361176.1:p.Arg154Cys | |
| ENST00000372110.7:c.505C>T | ENSP00000361182.3:p.Arg169Cys | |
| ENST00000372115.7:c.502C>T | ENSP00000361187.3:p.Arg168Cys | |
| ENST00000412971.5:c.76C>T | ENSP00000410263.1:p.Arg26Cys | |
| ENST00000435155.1:c.493C>T | ENSP00000403655.1:p.Arg165Cys | |
| ENST00000448481.5:c.493C>T | ENSP00000409718.1:p.Arg165Cys | |
| ENST00000450313.5:c.544C>T | ENSP00000408176.1:p.Arg182Cys | |
| ENST00000456914.6:c.460C>T | ENSP00000407590.2:p.Arg154Cys | |
| ENST00000461495.5:c.*199C>T | ENSP00000437166.1:n.*199C>T | |
| ENST00000462388.5:n.151C>T | ||
| ENST00000467940.5:c.*383C>T | ENSP00000436478.1:n.*383C>T | |
| ENST00000470256.5:c.347C>T | ENSP00000434985.1:p.Ser116Leu | |
| ENST00000475516.5:c.*273C>T | ENSP00000433843.1:n.*273C>T | |
| ENST00000476789.5:n.900C>T | ||
| ENST00000478796.5:n.447C>T | ||
| ENST00000479746.6:n.743C>T | ||
| ENST00000481139.5:n.933C>T | ||
| ENST00000481571.5:c.*273C>T | ENSP00000436597.1:n.*273C>T | |
| ENST00000483642.5:n.975C>T | ||
| ENST00000485484.5:n.761C>T | ||
| ENST00000488731.6:c.155C>T | ENSP00000432330.1:p.Ser52Leu | |
| ENST00000492494.5:n.857C>T | ||
| ENST00000525160.5:c.*111C>T | ENSP00000431568.1:n.*111C>T | |
| ENST00000528013.6:c.502C>T | ENSP00000433130.2:p.Arg168Cys | |
| ENST00000529984.5:c.155C>T | ENSP00000437093.1:p.Ser52Leu | |
| ENST00000531105.5:c.115+1596C>T | ENSP00000431292.1:n.115+1596C>T | |
| ENST00000533178.5:c.122-108C>T | ENSP00000436430.1:n.122-108C>T | |
| NM_001048171.1:c.502C>T | NP_001041636.1:p.Arg168Cys | |
| NM_001048172.1:c.463C>T | NP_001041637.1:p.Arg155Cys | |
| NM_001048173.1:c.460C>T | NP_001041638.1:p.Arg154Cys | |
| NM_001048174.1:c.460C>T | NP_001041639.1:p.Arg154Cys | |
| NM_001128425.1:c.544C>T , LRG_220t1:c.544C>T | NP_001121897.1:p.Arg182Cys | |
| NM_001293190.1:c.505C>T | NP_001280119.1:p.Arg169Cys | |
| NM_001293191.1:c.493C>T | NP_001280120.1:p.Arg165Cys | |
| NM_001293192.1:c.184C>T | NP_001280121.1:p.Arg62Cys | |
| NM_001293195.1:c.460C>T | NP_001280124.1:p.Arg154Cys | |
| NM_001293196.1:c.184C>T | NP_001280125.1:p.Arg62Cys | |
| NM_012222.2:c.535C>T | NP_036354.1:p.Arg179Cys | |
| XM_011541497.1:c.520C>T | XP_011539799.1:p.Arg174Cys | |
| XM_011541498.1:c.502C>T | XP_011539800.1:p.Arg168Cys | |
| XM_011541499.1:c.502C>T | XP_011539801.1:p.Arg168Cys | |
| XM_011541500.1:c.502C>T | XP_011539802.1:p.Arg168Cys | |
| XM_011541501.1:c.502C>T | XP_011539803.1:p.Arg168Cys | |
| XM_011541502.1:c.502C>T | XP_011539804.1:p.Arg168Cys | |
| XM_011541503.1:c.502C>T | XP_011539805.1:p.Arg168Cys | |
| XM_011541504.1:c.493C>T | XP_011539806.1:p.Arg165Cys | |
| XM_011541505.1:c.82C>T | XP_011539807.1:p.Arg28Cys | |
| XM_011541506.1:c.82C>T | XP_011539808.1:p.Arg28Cys | |
| XM_011541507.1:c.73C>T | XP_011539809.1:p.Arg25Cys | |
| XM_011541508.1:c.88C>T | XP_011539810.1:p.Arg30Cys | |
| XR_946658.1:n.591C>T | ||
| NM_001350650.1:c.115C>T | NP_001337579.1:p.Arg39Cys | |
| NM_001350651.1:c.115C>T | NP_001337580.1:p.Arg39Cys | |
| NR_146882.1:n.718C>T | ||
| NR_146883.1:n.532C>T | ||
| XM_011541497.3:c.520C>T | XP_011539799.1:p.Arg174Cys | |
| XM_011541500.3:c.502C>T | XP_011539802.1:p.Arg168Cys | |
| XM_011541501.2:c.502C>T | XP_011539803.1:p.Arg168Cys | |
| XM_011541502.2:c.502C>T | XP_011539804.1:p.Arg168Cys | |
| XM_011541503.2:c.502C>T | XP_011539805.1:p.Arg168Cys | |
| XM_011541504.2:c.493C>T | XP_011539806.1:p.Arg165Cys | |
| XM_011541505.2:c.82C>T | XP_011539807.1:p.Arg28Cys | |
| XM_011541506.2:c.82C>T | XP_011539808.1:p.Arg28Cys | |
| XM_017001331.1:c.502C>T | XP_016856820.1:p.Arg168Cys | |
| XM_017001332.1:c.502C>T | XP_016856821.1:p.Arg168Cys | |
| XM_017001333.1:c.502C>T | XP_016856822.1:p.Arg168Cys | |
| XM_017001334.1:c.463C>T | XP_016856823.1:p.Arg155Cys | |
| XM_017001335.1:c.184C>T | XP_016856824.1:p.Arg62Cys | |
| XM_017001336.1:c.115C>T | XP_016856825.1:p.Arg39Cys | |
| XM_017001337.1:c.115C>T | XP_016856826.1:p.Arg39Cys | |
| XM_024447244.1:c.115C>T | XP_024303012.1:p.Arg39Cys | |
| XM_024447245.1:c.115C>T | XP_024303013.1:p.Arg39Cys | |
| XM_024447248.1:c.73C>T | XP_024303016.1:p.Arg25Cys | |
| XM_024447249.1:c.-57C>T | XP_024303017.1:n.-57C>T | |
| XM_024447250.1:c.-57C>T | XP_024303018.1:n.-57C>T | |
| XM_024447251.1:c.-57C>T | XP_024303019.1:n.-57C>T | |
| XR_001737190.1:n.505C>T | ||
| XR_001737192.1:n.317C>T | ||
| XR_002956643.1:n.497C>T | ||
| XR_002956644.1:n.1032C>T | ||
| XR_946658.2:n.605C>T | ||
| NM_001048171.2:c.460C>T | NP_001041636.2:p.Arg154Cys | |
| NM_001128425.2:c.544C>T MANE Plus Clinical | NP_001121897.1:p.Arg182Cys | |
| NM_001048172.2:c.463C>T | NP_001041637.1:p.Arg155Cys | |
| NM_001048173.2:c.460C>T | NP_001041638.1:p.Arg154Cys | |
| NM_001048174.2:c.460C>T MANE Select | NP_001041639.1:p.Arg154Cys | |
| NM_001293190.2:c.505C>T | NP_001280119.1:p.Arg169Cys | |
| NM_001293191.2:c.493C>T | NP_001280120.1:p.Arg165Cys | |
| NM_001293192.2:c.184C>T | NP_001280121.1:p.Arg62Cys | |
| NM_001293195.2:c.460C>T | NP_001280124.1:p.Arg154Cys | |
| NM_001293196.2:c.184C>T | NP_001280125.1:p.Arg62Cys | |
| NM_001350650.2:c.115C>T | NP_001337579.1:p.Arg39Cys | |
| NM_001350651.2:c.115C>T | NP_001337580.1:p.Arg39Cys | |
| NM_012222.3:c.535C>T | NP_036354.1:p.Arg179Cys | |
| NR_146882.2:n.688C>T | ||
| NR_146883.2:n.537C>T |