Linked Data
ClinVar Variation Id:
2513
ClinVar RCV Id:
RCV000002620
dbSNP Id:
rs28940282
PubMed:
PMID:11754051
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122780C>T , CM000679.2:g.72122780C>T | GRCh38 |
| NC_000017.10:g.70118921C>T , CM000679.1:g.70118921C>T | GRCh37 |
| NC_000017.9:g.67630516C>T | NCBI36 |
| NG_012490.1:g.6761C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245479.3:c.493C>T MANE Select | ENSP00000245479.2:p.His165Tyr | |
| ENST00000245479.2:c.493C>T | ENSP00000245479.2:p.His165Tyr | |
| NM_000346.3:c.493C>T | NP_000337.1:p.His165Tyr | |
| NM_000346.4:c.493C>T MANE Select | NP_000337.1:p.His165Tyr |