Linked Data
ClinVar Variation Id:
41753
ClinVar RCV Id:
RCV000034670
RCV000115756
RCV000119122
RCV000144640
RCV000212715
RCV003492335
RCV004528163
dbSNP Id:
rs150792276
ExAC:
1:45797139 G / A
gnomAD v2:
1-45797139-G-A
gnomAD v3:
1-45331467-G-A
gnomAD v4:
1-45331467-G-A
PubMed:
PMID:14579148
PMID:14991577
PMID:16134147
PMID:16557584
PMID:16616356
PMID:17524638
PMID:17581577
PMID:19531215
PMID:19725997
PMID:20687945
PMID:21777424
PMID:22703879
PMID:22976915
PMID:24470512
PMID:25569433
PMID:25820570
PMID:25980754
PMID:26377631
PMID:26976419
PMID:27621404
PMID:27829682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45331467G>A , CM000663.2:g.45331467G>A | GRCh38 |
| NC_000001.10:g.45797139G>A , CM000663.1:g.45797139G>A | GRCh37 |
| NC_000001.9:g.45569726G>A | NCBI36 |
| NG_008189.1:g.14004C>T , LRG_220:g.14004C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.808C>T | ENSP00000410263.2:p.Arg270Cys | |
| ENST00000435155.2:c.1225C>T | ENSP00000403655.2:p.Arg409Cys | |
| ENST00000467459.6:c.*54C>T | ENSP00000435889.2:n.*54C>T | |
| ENST00000483127.2:c.1210C>T | ENSP00000436469.2:p.Arg404Cys | |
| ENST00000485271.6:c.1192C>T | ENSP00000431264.2:p.Arg398Cys | |
| ENST00000529892.6:c.1045C>T | ENSP00000432528.2:p.Arg349Cys | |
| ENST00000533178.6:c.*521C>T | ENSP00000436430.2:n.*521C>T | |
| ENST00000672314.2:c.1192C>T | ENSP00000500828.2:p.Arg398Cys | |
| ENST00000710952.2:c.1276C>T MANE Plus Clinical | ENSP00000518552.2:p.Arg426Cys | |
| ENST00000672818.3:c.1267C>T | ENSP00000500891.1:p.Arg423Cys | |
| ENST00000456914.7:c.1192C>T MANE Select | ENSP00000407590.2:p.Arg398Cys | |
| ENST00000671898.1:c.1780C>T | ENSP00000499896.1:p.Arg594Cys | |
| ENST00000672011.1:c.*521C>T | ENSP00000500418.1:n.*521C>T | |
| ENST00000672314.1:c.1192C>T | ENSP00000500828.1:p.Arg398Cys | |
| ENST00000672593.1:c.*1418C>T | ENSP00000500455.1:n.*1418C>T | |
| ENST00000672818.2:c.1267C>T | ENSP00000500891.1:p.Arg423Cys | |
| ENST00000673134.1:c.*889C>T | ENSP00000500526.1:n.*889C>T | |
| ENST00000354383.10:c.1195C>T | ENSP00000346354.6:p.Arg399Cys | |
| ENST00000355498.6:c.1192C>T | ENSP00000347685.2:p.Arg398Cys | |
| ENST00000372098.7:c.1267C>T | ENSP00000361170.3:p.Arg423Cys | |
| ENST00000372104.5:c.1192C>T | ENSP00000361176.1:p.Arg398Cys | |
| ENST00000372110.7:c.1237C>T | ENSP00000361182.3:p.Arg413Cys | |
| ENST00000372115.7:c.1234C>T | ENSP00000361187.3:p.Arg412Cys | |
| ENST00000448481.5:c.1225C>T | ENSP00000409718.1:p.Arg409Cys | |
| ENST00000450313.5:c.1276C>T | ENSP00000408176.1:p.Arg426Cys | |
| ENST00000456914.6:c.1192C>T | ENSP00000407590.2:p.Arg398Cys | |
| ENST00000467459.5:c.609C>T | ENSP00000435889.1:n.609C>T | |
| ENST00000475516.5:c.*1005C>T | ENSP00000433843.1:n.*1005C>T | |
| ENST00000481571.5:c.*1005C>T | ENSP00000436597.1:n.*1005C>T | |
| ENST00000482094.5:n.513C>T | ||
| ENST00000488731.6:c.277C>T | ENSP00000432330.1:p.Arg93Cys | |
| ENST00000528013.6:c.1234C>T | ENSP00000433130.2:p.Arg412Cys | |
| ENST00000529892.5:c.267C>T | ||
| ENST00000529984.5:c.277C>T | ENSP00000437093.1:p.Arg93Cys | |
| ENST00000531105.5:c.116-2030C>T | ENSP00000431292.1:n.116-2030C>T | |
| ENST00000533178.5:c.821C>T | ENSP00000436430.1:n.821C>T | |
| NM_001048171.1:c.1234C>T | NP_001041636.1:p.Arg412Cys | |
| NM_001048172.1:c.1195C>T | NP_001041637.1:p.Arg399Cys | |
| NM_001048173.1:c.1192C>T | NP_001041638.1:p.Arg398Cys | |
| NM_001048174.1:c.1192C>T | NP_001041639.1:p.Arg398Cys | |
| NM_001128425.1:c.1276C>T , LRG_220t1:c.1276C>T | NP_001121897.1:p.Arg426Cys | |
| NM_001293190.1:c.1237C>T | NP_001280119.1:p.Arg413Cys | |
| NM_001293191.1:c.1225C>T | NP_001280120.1:p.Arg409Cys | |
| NM_001293192.1:c.916C>T | NP_001280121.1:p.Arg306Cys | |
| NM_001293195.1:c.1192C>T | NP_001280124.1:p.Arg398Cys | |
| NM_001293196.1:c.916C>T | NP_001280125.1:p.Arg306Cys | |
| NM_012222.2:c.1267C>T | NP_036354.1:p.Arg423Cys | |
| XM_011541497.1:c.1252C>T | XP_011539799.1:p.Arg418Cys | |
| XM_011541498.1:c.1234C>T | XP_011539800.1:p.Arg412Cys | |
| XM_011541499.1:c.1234C>T | XP_011539801.1:p.Arg412Cys | |
| XM_011541500.1:c.1234C>T | XP_011539802.1:p.Arg412Cys | |
| XM_011541501.1:c.1234C>T | XP_011539803.1:p.Arg412Cys | |
| XM_011541502.1:c.1234C>T | XP_011539804.1:p.Arg412Cys | |
| XM_011541503.1:c.1234C>T | XP_011539805.1:p.Arg412Cys | |
| XM_011541504.1:c.1225C>T | XP_011539806.1:p.Arg409Cys | |
| XM_011541505.1:c.814C>T | XP_011539807.1:p.Arg272Cys | |
| XM_011541506.1:c.814C>T | XP_011539808.1:p.Arg272Cys | |
| XM_011541507.1:c.805C>T | XP_011539809.1:p.Arg269Cys | |
| XM_011541508.1:c.820C>T | XP_011539810.1:p.Arg274Cys | |
| XR_946658.1:n.1323C>T | ||
| NM_001350650.1:c.847C>T | NP_001337579.1:p.Arg283Cys | |
| NM_001350651.1:c.847C>T | NP_001337580.1:p.Arg283Cys | |
| NR_146882.1:n.1450C>T | ||
| NR_146883.1:n.1264C>T | ||
| XM_011541497.3:c.1252C>T | XP_011539799.1:p.Arg418Cys | |
| XM_011541500.3:c.1234C>T | XP_011539802.1:p.Arg412Cys | |
| XM_011541501.2:c.1234C>T | XP_011539803.1:p.Arg412Cys | |
| XM_011541502.2:c.1234C>T | XP_011539804.1:p.Arg412Cys | |
| XM_011541503.2:c.1234C>T | XP_011539805.1:p.Arg412Cys | |
| XM_011541504.2:c.1225C>T | XP_011539806.1:p.Arg409Cys | |
| XM_011541505.2:c.814C>T | XP_011539807.1:p.Arg272Cys | |
| XM_011541506.2:c.814C>T | XP_011539808.1:p.Arg272Cys | |
| XM_017001331.1:c.1234C>T | XP_016856820.1:p.Arg412Cys | |
| XM_017001332.1:c.1234C>T | XP_016856821.1:p.Arg412Cys | |
| XM_017001333.1:c.1234C>T | XP_016856822.1:p.Arg412Cys | |
| XM_017001334.1:c.1195C>T | XP_016856823.1:p.Arg399Cys | |
| XM_017001335.1:c.916C>T | XP_016856824.1:p.Arg306Cys | |
| XM_017001336.1:c.847C>T | XP_016856825.1:p.Arg283Cys | |
| XM_017001337.1:c.847C>T | XP_016856826.1:p.Arg283Cys | |
| XM_024447244.1:c.847C>T | XP_024303012.1:p.Arg283Cys | |
| XM_024447245.1:c.847C>T | XP_024303013.1:p.Arg283Cys | |
| XM_024447248.1:c.805C>T | XP_024303016.1:p.Arg269Cys | |
| XM_024447249.1:c.676C>T | XP_024303017.1:p.Arg226Cys | |
| XM_024447250.1:c.676C>T | XP_024303018.1:p.Arg226Cys | |
| XM_024447251.1:c.676C>T | XP_024303019.1:p.Arg226Cys | |
| XR_001737190.1:n.1237C>T | ||
| XR_001737192.1:n.1049C>T | ||
| XR_002956643.1:n.1229C>T | ||
| XR_002956644.1:n.1764C>T | ||
| XR_946658.2:n.1337C>T | ||
| NM_001048171.2:c.1192C>T | NP_001041636.2:p.Arg398Cys | |
| NM_001128425.2:c.1276C>T MANE Plus Clinical | NP_001121897.1:p.Arg426Cys | |
| NM_001048172.2:c.1195C>T | NP_001041637.1:p.Arg399Cys | |
| NM_001048173.2:c.1192C>T | NP_001041638.1:p.Arg398Cys | |
| NM_001048174.2:c.1192C>T MANE Select | NP_001041639.1:p.Arg398Cys | |
| NM_001293190.2:c.1237C>T | NP_001280119.1:p.Arg413Cys | |
| NM_001293191.2:c.1225C>T | NP_001280120.1:p.Arg409Cys | |
| NM_001293192.2:c.916C>T | NP_001280121.1:p.Arg306Cys | |
| NM_001293195.2:c.1192C>T | NP_001280124.1:p.Arg398Cys | |
| NM_001293196.2:c.916C>T | NP_001280125.1:p.Arg306Cys | |
| NM_001350650.2:c.847C>T | NP_001337579.1:p.Arg283Cys | |
| NM_001350651.2:c.847C>T | NP_001337580.1:p.Arg283Cys | |
| NM_012222.3:c.1267C>T | NP_036354.1:p.Arg423Cys | |
| NR_146882.2:n.1420C>T | ||
| NR_146883.2:n.1269C>T |