Linked Data
ClinVar Variation Id:
56047
ClinVar RCV Id:
RCV000049456
dbSNP Id:
rs386833528
COSMIC:
COSM4138965
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6588686T>A , CM000671.2:g.6588686T>A | GRCh38 |
| NC_000009.11:g.6588686T>A , CM000671.1:g.6588686T>A | GRCh37 |
| NC_000009.10:g.6578686T>A | NCBI36 |
| NG_016397.1:g.62007A>T , LRG_643:g.62007A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1597A>T MANE Select | ENSP00000370737.4:p.Asn533Tyr | |
| ENST00000639364.1:n.1297A>T | ||
| ENST00000639443.1:n.1165A>T | ||
| ENST00000639954.1:n.1305A>T | ||
| ENST00000640592.1:n.1480A>T | ||
| ENST00000321612.6:c.1597A>T | ENSP00000370737.3:p.Asn533Tyr | |
| NM_000170.2:c.1597A>T , LRG_643t1:c.1597A>T | NP_000161.2:p.Asn533Tyr | |
| NM_000170.3:c.1597A>T MANE Select | NP_000161.2:p.Asn533Tyr |