Linked Data
ClinVar Variation Id:
162394
ClinVar RCV Id:
RCV000149789
dbSNP Id:
rs724159972
PubMed:
PMID:25061177
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69013871G>C , CM000671.2:g.69013871G>C | GRCh38 |
| NC_000009.11:g.71628787G>C , CM000671.1:g.71628787G>C | GRCh37 |
| NC_000009.10:g.70818607G>C | NCBI36 |
| NG_042177.1:g.5253C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377276.5:c.222C>G MANE Select | ENSP00000366488.2:p.Ile74Met | |
| ENST00000377276.3:c.222C>G | ENSP00000366488.2:p.Ile74Met | |
| NM_002732.3:c.222C>G | NP_002723.2:p.Ile74Met | |
| NM_002732.4:c.222C>G MANE Select | NP_002723.2:p.Ile74Met |