Linked Data
ClinVar Variation Id:
6699
ClinVar RCV Id:
RCV000007089
dbSNP Id:
rs104894612
PubMed:
PMID:11846737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.56594774G>A , CM000679.2:g.56594774G>A | GRCh38 |
| NC_000017.10:g.54672135G>A , CM000679.1:g.54672135G>A | GRCh37 |
| NC_000017.9:g.52027134G>A | NCBI36 |
| NG_011958.1:g.6076G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332822.6:c.551G>A MANE Select | ENSP00000328181.4:p.Cys184Tyr | |
| ENST00000332822.4:c.551G>A | ENSP00000328181.4:p.Cys184Tyr | |
| NM_005450.4:c.551G>A | NP_005441.1:p.Cys184Tyr | |
| NM_005450.6:c.551G>A MANE Select | NP_005441.1:p.Cys184Tyr |