Linked Data
ClinVar Variation Id:
15490
ClinVar RCV Id:
RCV000016750
dbSNP Id:
rs34037627
PubMed:
PMID:2101840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226728A>T , CM000673.2:g.5226728A>T | GRCh38 |
| NC_000011.9:g.5247958A>T , CM000673.1:g.5247958A>T | GRCh37 |
| NC_000011.8:g.5204534A>T | NCBI36 |
| NG_000007.3:g.70888T>A | |
| NG_059281.1:g.5344T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.164T>A | ENSP00000494175.1:p.Val55Asp | |
| ENST00000335295.4:c.164T>A MANE Select | ENSP00000333994.3:p.Val55Asp | |
| ENST00000380315.2:c.164T>A | ENSP00000369671.2:p.Val55Asp | |
| ENST00000475226.1:n.96T>A | ||
| ENST00000485743.1:n.215T>A | ||
| ENST00000633227.1:c.148T>A | ENSP00000488004.1:p.Leu50Ile | |
| NM_000518.4:c.164T>A | NP_000509.1:p.Val55Asp | |
| NM_000518.5:c.164T>A MANE Select | NP_000509.1:p.Val55Asp |