Linked Data
ClinVar Variation Id:
3230864
ClinVar RCV Id:
RCV004522978
dbSNP Id:
rs1476576625
gnomAD v2:
11-47367779-G-A
gnomAD v4:
11-47346228-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47346228G>A , CM000673.2:g.47346228G>A | GRCh38 |
| NC_000011.9:g.47367779G>A , CM000673.1:g.47367779G>A | GRCh37 |
| NC_000011.8:g.47324355G>A | NCBI36 |
| NG_007667.1:g.11475C>T , LRG_386:g.11475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1069C>T MANE Select | ENSP00000442795.1:p.Arg357Cys | |
| ENST00000256993.8:c.1069C>T | ENSP00000256993.5:p.Arg357Cys | |
| ENST00000399249.6:c.1069C>T | ENSP00000382193.2:p.Arg357Cys | |
| ENST00000544791.1:c.1069C>T | ENSP00000444259.1:p.Arg357Cys | |
| ENST00000545968.5:c.1069C>T | ENSP00000442795.1:p.Arg357Cys | |
| NM_000256.3:c.1069C>T , LRG_386t1:c.1069C>T MANE Select | NP_000247.2:p.Arg357Cys | |
| XM_011520117.1:c.1051C>T | XP_011518419.1:p.Arg351Cys | |
| XM_011520118.1:c.1069C>T | XP_011518420.1:p.Arg357Cys |