Linked Data
ClinVar Variation Id:
21623
ClinVar RCV Id:
RCV000020813
dbSNP Id:
rs199422187
gnomAD v4:
1-197092032-G-A
COSMIC:
COSM901652
PubMed:
PMID:20301772
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197092032G>A , CM000663.2:g.197092032G>A | GRCh38 |
| NC_000001.10:g.197061162G>A , CM000663.1:g.197061162G>A | GRCh37 |
| NC_000001.9:g.195327785G>A | NCBI36 |
| NG_015867.1:g.59663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2606C>T | ||
| ENST00000367409.9:c.9319C>T MANE Select | ENSP00000356379.4:p.Arg3107Ter | |
| ENST00000680265.1:c.9541C>T | ENSP00000505384.1:p.Arg3181Ter | |
| ENST00000680710.1:c.9319C>T | ENSP00000506676.1:p.Arg3107Ter | |
| ENST00000294732.11:c.4564C>T | ENSP00000294732.7:p.Arg1522Ter | |
| ENST00000367408.5:c.2314C>T | ENSP00000356378.1:p.Arg772Ter | |
| ENST00000367409.8:c.9319C>T | ENSP00000356379.4:p.Arg3107Ter | |
| ENST00000612785.1:c.3277C>T | ENSP00000479244.1:p.Arg1093Ter | |
| NM_001206846.1:c.4564C>T | NP_001193775.1:p.Arg1522Ter | |
| NM_018136.4:c.9319C>T | NP_060606.3:p.Arg3107Ter | |
| NM_018136.5:c.9319C>T MANE Select | NP_060606.3:p.Arg3107Ter | |
| NM_001206846.2:c.4564C>T | NP_001193775.1:p.Arg1522Ter |