Linked Data
ClinVar Variation Id:
225129
ClinVar RCV Id:
RCV000210751
dbSNP Id:
rs869320634
PubMed:
PMID:26123021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203307382G>A , CM000663.2:g.203307382G>A | GRCh38 |
| NC_000001.10:g.203276510G>A , CM000663.1:g.203276510G>A | GRCh37 |
| NC_000001.9:g.201543133G>A | NCBI36 |
| NG_046929.1:g.6847G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290551.5:c.421G>A MANE Select | ENSP00000290551.4:p.Val141Met | |
| ENST00000290551.4:c.421G>A | ENSP00000290551.4:p.Val141Met | |
| ENST00000475157.1:c.421G>A | ENSP00000433553.1:p.Val141Met | |
| NM_006763.2:c.421G>A | NP_006754.1:p.Val141Met | |
| NM_006763.3:c.421G>A MANE Select | NP_006754.1:p.Val141Met |