Linked Data
ClinVar Variation Id:
2795109
ClinVar RCV Id:
RCV003675237
dbSNP Id:
rs1409930133
gnomAD v2:
2-176958225-G-A
gnomAD v4:
2-176093497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176093497G>A , CM000664.2:g.176093497G>A | GRCh38 |
| NC_000002.11:g.176958225G>A , CM000664.1:g.176958225G>A | GRCh37 |
| NC_000002.10:g.176666471G>A | NCBI36 |
| NG_008137.1:g.5694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392539.4:c.607G>A MANE Select | ENSP00000376322.3:p.Val203Met | |
| ENST00000392539.3:c.607G>A | ENSP00000376322.3:p.Val203Met | |
| NM_000523.3:c.607G>A | NP_000514.2:p.Val203Met | |
| XM_011511068.1:c.725-983G>A | XP_011509370.1:n.725-983G>A | |
| XM_011511068.2:c.725-983G>A | XP_011509370.1:n.725-983G>A | |
| NM_000523.4:c.607G>A MANE Select | NP_000514.2:p.Val203Met |