Linked Data
ClinVar Variation Id:
15631
ClinVar RCV Id:
RCV000016898
dbSNP Id:
rs41515649
PubMed:
PMID:2606724
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173216G>A , CM000678.2:g.173216G>A | GRCh38 |
| NC_000016.9:g.223215G>A , CM000678.1:g.223215G>A | GRCh37 |
| NC_000016.8:g.163215G>A | NCBI36 |
| NG_000006.1:g.34079G>A | |
| NG_059186.1:g.1566G>A | |
| NG_059271.1:g.5370G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251595.11:c.187G>A MANE Select | ENSP00000251595.6:p.Val63Met | |
| ENST00000251595.10:c.187G>A | ENSP00000251595.6:p.Val63Met | |
| ENST00000397806.1:c.91G>A | ENSP00000380908.1:p.Val31Met | |
| ENST00000482565.1:n.323G>A | ||
| ENST00000484216.1:n.156G>A | ||
| NM_000517.4:c.187G>A | NP_000508.1:p.Val63Met | |
| NM_000517.6:c.187G>A MANE Select | NP_000508.1:p.Val63Met |