Linked Data
ClinVar Variation Id:
404258
ClinVar RCV Id:
RCV003298464
dbSNP Id:
rs375724784
ExAC:
1:155874197 G / A
gnomAD v2:
1-155874197-G-A
gnomAD v3:
1-155904406-G-A
gnomAD v4:
1-155904406-G-A
COSMIC:
COSM233269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155904406G>A , CM000663.2:g.155904406G>A | GRCh38 |
| NC_000001.10:g.155874197G>A , CM000663.1:g.155874197G>A | GRCh37 |
| NC_000001.9:g.154140821G>A | NCBI36 |
| NG_033885.1:g.11997C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461050.6:c.*63C>T | ENSP00000476319.1:n.*63C>T | |
| ENST00000539040.6:c.226C>T | ENSP00000441950.1:p.Arg76Cys | |
| ENST00000704061.1:c.*5C>T | ENSP00000515664.1:n.*5C>T | |
| ENST00000368323.8:c.334C>T MANE Select | ENSP00000357306.3:p.Arg112Cys | |
| ENST00000651833.1:c.334C>T | ENSP00000498732.1:p.Arg112Cys | |
| ENST00000651853.1:c.337C>T | ENSP00000498685.1:p.Arg113Cys | |
| ENST00000368322.7:c.385C>T | ENSP00000357305.3:p.Arg129Cys | |
| ENST00000368323.7:c.334C>T | ENSP00000357306.3:p.Arg112Cys | |
| ENST00000461050.5:c.*63C>T | ENSP00000476319.1:n.*63C>T | |
| ENST00000539040.5:c.226C>T | ENSP00000441950.1:p.Arg76Cys | |
| ENST00000609492.1:c.334C>T | ENSP00000476612.1:p.Arg112Cys | |
| NM_001256820.1:c.226C>T | NP_001243749.1:p.Arg76Cys | |
| NM_001256821.1:c.385C>T | NP_001243750.1:p.Arg129Cys | |
| NM_006912.5:c.334C>T | NP_008843.1:p.Arg112Cys | |
| NM_001256820.2:c.226C>T | NP_001243749.1:p.Arg76Cys | |
| NM_001256821.2:c.385C>T | NP_001243750.1:p.Arg129Cys | |
| NM_006912.6:c.334C>T MANE Select | NP_008843.1:p.Arg112Cys |