Linked Data
ClinVar Variation Id:
2414
ClinVar RCV Id:
RCV000002515
dbSNP Id:
rs74315360
PubMed:
PMID:16966503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20638104C>A , CM000663.2:g.20638104C>A | GRCh38 |
| NC_000001.10:g.20964597C>A , CM000663.1:g.20964597C>A | GRCh37 |
| NC_000001.9:g.20837184C>A | NCBI36 |
| NG_008164.1:g.9650C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.650C>A MANE Select | ENSP00000364204.3:p.Ala217Asp | |
| ENST00000321556.4:c.650C>A | ENSP00000364204.3:p.Ala217Asp | |
| NM_032409.2:c.650C>A | NP_115785.1:p.Ala217Asp | |
| NM_032409.3:c.650C>A MANE Select | NP_115785.1:p.Ala217Asp |