Linked Data
ClinVar Variation Id:
464429
dbSNP Id:
rs759377911
ExAC:
12:33031450 G / A
gnomAD v2:
12-33031450-G-A
gnomAD v3:
12-32878516-G-A
gnomAD v4:
12-32878516-G-A
COSMIC:
COSM3460269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32878516G>A , CM000674.2:g.32878516G>A | GRCh38 |
| NC_000012.11:g.33031450G>A , CM000674.1:g.33031450G>A | GRCh37 |
| NC_000012.10:g.32922717G>A | NCBI36 |
| NG_009000.1:g.23331C>T , LRG_398:g.23331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700559.2:c.364C>T | ENSP00000515065.2:p.Arg122Cys | |
| ENST00000700563.2:c.364C>T | ENSP00000515066.2:p.Arg122Cys | |
| ENST00000700563.1:c.318C>T | ||
| ENST00000700564.1:n.368C>T | ||
| ENST00000700565.1:n.217C>T | ||
| ENST00000070846.11:c.364C>T | ENSP00000070846.6:p.Arg122Cys | |
| ENST00000340811.9:c.364C>T MANE Select | ENSP00000342800.5:p.Arg122Cys | |
| ENST00000070846.10:c.364C>T | ENSP00000070846.6:p.Arg122Cys | |
| ENST00000340811.8:c.364C>T | ENSP00000342800.4:p.Arg122Cys | |
| ENST00000613243.1:c.364C>T | ENSP00000478295.1:p.Arg122Cys | |
| NM_001005242.2:c.364C>T | NP_001005242.2:p.Arg122Cys | |
| NM_004572.3:c.364C>T , LRG_398t1:c.364C>T | NP_004563.2:p.Arg122Cys | |
| NM_001005242.3:c.364C>T MANE Select | NP_001005242.2:p.Arg122Cys | |
| NM_004572.4:c.364C>T | NP_004563.2:p.Arg122Cys |