Linked Data
ClinVar Variation Id:
41690
ClinVar RCV Id:
RCV000034602
RCV000054845
RCV000189811
RCV000319085
RCV000568490
RCV000761004
RCV001085737
dbSNP Id:
rs118203532
ExAC:
9:135781505 G / C
gnomAD v2:
9-135781505-G-C
gnomAD v3:
9-132906118-G-C
gnomAD v4:
9-132906118-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132906118G>C , CM000671.2:g.132906118G>C | GRCh38 |
| NC_000009.11:g.135781505G>C , CM000671.1:g.135781505G>C | GRCh37 |
| NC_000009.10:g.134771326G>C | NCBI36 |
| NG_012386.1:g.43516C>G , LRG_486:g.43516C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000475903.7:c.1457C>G | ENSP00000496126.2:p.Ser486Cys | |
| ENST00000490179.4:c.1460C>G | ENSP00000495533.2:p.Ser487Cys | |
| ENST00000642261.2:c.1460C>G | ENSP00000494743.2:p.Ser487Cys | |
| ENST00000643275.2:c.1460C>G | ENSP00000495598.2:p.Ser487Cys | |
| ENST00000643362.2:c.1073C>G | ENSP00000496398.2:p.Ser358Cys | |
| ENST00000643625.2:c.1460C>G | ENSP00000495546.2:p.Ser487Cys | |
| ENST00000643691.2:c.1097C>G | ENSP00000494916.2:p.Ser366Cys | |
| ENST00000644184.2:c.1460C>G | ENSP00000495428.2:p.Ser487Cys | |
| ENST00000645129.2:c.1304C>G | ENSP00000493639.2:p.Ser435Cys | |
| ENST00000646440.2:c.1460C>G | ENSP00000495830.2:p.Ser487Cys | |
| ENST00000298552.9:c.1460C>G MANE Select | ENSP00000298552.3:p.Ser487Cys | |
| ENST00000642617.1:c.1457C>G | ENSP00000493773.1:p.Ser486Cys | |
| ENST00000642627.1:c.1457C>G | ENSP00000496772.1:p.Ser486Cys | |
| ENST00000642811.1:c.*1230C>G | ENSP00000495554.1:n.*1230C>G | |
| ENST00000643072.1:c.1307C>G | ENSP00000496691.1:p.Ser436Cys | |
| ENST00000643583.1:c.1460C>G | ENSP00000494685.1:p.Ser487Cys | |
| ENST00000643875.1:c.1460C>G | ENSP00000495158.1:p.Ser487Cys | |
| ENST00000644097.1:c.1457C>G | ENSP00000494682.1:p.Ser486Cys | |
| ENST00000644184.1:c.197C>G | ENSP00000495428.1:p.Ser66Cys | |
| ENST00000644255.1:c.*1227C>G | ENSP00000493608.1:n.*1227C>G | |
| ENST00000644319.1:n.1835C>G | ||
| ENST00000644882.1:n.415C>G | ||
| ENST00000645901.1:n.2311C>G | ||
| ENST00000646391.1:c.*1230C>G | ENSP00000494104.1:n.*1230C>G | |
| ENST00000646625.1:c.1460C>G | ENSP00000496263.1:p.Ser487Cys | |
| ENST00000647262.1:n.425C>G | ||
| ENST00000647279.1:c.*699C>G | ENSP00000494502.1:n.*699C>G | |
| ENST00000647506.1:n.2336C>G | ||
| ENST00000647534.1:n.524C>G | ||
| ENST00000298552.7:c.1460C>G | ENSP00000298552.3:p.Ser487Cys | |
| ENST00000440111.6:c.1460C>G | ENSP00000394524.2:p.Ser487Cys | |
| ENST00000545250.5:c.1307C>G | ENSP00000444017.1:p.Ser436Cys | |
| NM_000368.4:c.1460C>G , LRG_486t1:c.1460C>G | NP_000359.1:p.Ser487Cys | |
| NM_001162426.1:c.1457C>G | NP_001155898.1:p.Ser486Cys | |
| NM_001162427.1:c.1307C>G | NP_001155899.1:p.Ser436Cys | |
| XM_005272211.1:c.1460C>G | XP_005272268.1:p.Ser487Cys | |
| XM_006717271.1:c.1460C>G | XP_006717334.1:p.Ser487Cys | |
| XM_006717272.2:c.1460C>G | XP_006717335.1:p.Ser487Cys | |
| XM_011518979.1:c.1460C>G | XP_011517281.1:p.Ser487Cys | |
| NM_001362177.1:c.1097C>G | NP_001349106.1:p.Ser366Cys | |
| XM_011518979.2:c.1460C>G | XP_011517281.1:p.Ser487Cys | |
| XM_017015096.1:c.1460C>G | XP_016870585.1:p.Ser487Cys | |
| XM_017015097.1:c.1460C>G | XP_016870586.1:p.Ser487Cys | |
| XM_017015098.1:c.1457C>G | XP_016870587.1:p.Ser486Cys | |
| XM_017015100.1:c.1097C>G | XP_016870589.1:p.Ser366Cys | |
| XM_017015101.1:c.1094C>G | XP_016870590.1:p.Ser365Cys | |
| NM_000368.5:c.1460C>G MANE Select | NP_000359.1:p.Ser487Cys | |
| NM_001162426.2:c.1457C>G | NP_001155898.1:p.Ser486Cys | |
| NM_001162427.2:c.1307C>G | NP_001155899.1:p.Ser436Cys | |
| NM_001362177.2:c.1097C>G | NP_001349106.1:p.Ser366Cys |