Linked Data
ClinVar Variation Id:
15620
ClinVar RCV Id:
RCV000016887
dbSNP Id:
rs33959340
PubMed:
PMID:11570727
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226609C>A , CM000673.2:g.5226609C>A | GRCh38 |
| NC_000011.9:g.5247839C>A , CM000673.1:g.5247839C>A | GRCh37 |
| NC_000011.8:g.5204415C>A | NCBI36 |
| NG_000007.3:g.71007G>T | |
| NG_059281.1:g.5463G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.283G>T | ENSP00000494175.1:p.Asp95Tyr | |
| ENST00000335295.4:c.283G>T MANE Select | ENSP00000333994.3:p.Asp95Tyr | |
| ENST00000475226.1:n.215G>T | ||
| ENST00000485743.1:n.334G>T | ||
| ENST00000633227.1:c.*99G>T | ENSP00000488004.1:n.*99G>T | |
| NM_000518.4:c.283G>T | NP_000509.1:p.Asp95Tyr | |
| NM_000518.5:c.283G>T MANE Select | NP_000509.1:p.Asp95Tyr |