Linked Data
ClinVar Variation Id:
208980
ClinVar RCV Id:
RCV000190899
dbSNP Id:
rs797045143
PubMed:
PMID:25954030
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2438464G>A , CM000681.2:g.2438464G>A | GRCh38 |
| NC_000019.9:g.2438462G>A , CM000681.1:g.2438462G>A | GRCh37 |
| NC_000019.8:g.2389462G>A | NCBI36 |
| NG_008355.1:g.23497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325327.4:c.469C>T MANE Select | ENSP00000327054.3:p.His157Tyr | |
| ENST00000325327.3:c.469C>T | ENSP00000327054.3:p.His157Tyr | |
| NM_032737.3:c.469C>T | NP_116126.3:p.His157Tyr | |
| XM_011528378.1:c.469C>T | XP_011526680.1:p.His157Tyr | |
| NM_032737.4:c.469C>T MANE Select | NP_116126.3:p.His157Tyr |