Linked Data
ClinVar Variation Id:
8687
ClinVar RCV Id:
RCV000009224
dbSNP Id:
rs74315488
gnomAD v4:
22-26599591-C-A
COSMIC:
COSM6398192
PubMed:
PMID:12360425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26599591C>A , CM000684.2:g.26599591C>A | GRCh38 |
| NC_000022.10:g.26995555C>A , CM000684.1:g.26995555C>A | GRCh37 |
| NC_000022.9:g.25325555C>A | NCBI36 |
| NG_009826.1:g.23437G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647684.1:c.658G>T MANE Select | ENSP00000497249.1:p.Gly220Ter | |
| ENST00000215939.2:c.658G>T | ENSP00000215939.2:p.Gly220Ter | |
| NM_001887.3:c.658G>T | NP_001878.1:p.Gly220Ter | |
| XM_011529899.1:c.658G>T | XP_011528201.1:p.Gly220Ter | |
| NM_001887.4:c.658G>T MANE Select | NP_001878.1:p.Gly220Ter | |
| XM_011529899.3:c.658G>T | XP_011528201.1:p.Gly220Ter |