Linked Data
ClinVar Variation Id:
7090
ClinVar RCV Id:
RCV000007506
dbSNP Id:
rs121909054
PubMed:
PMID:18591508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.167825264G>A , CM000665.2:g.167825264G>A | GRCh38 |
| NC_000003.11:g.167543052G>A , CM000665.1:g.167543052G>A | GRCh37 |
| NC_000003.10:g.169025746G>A | NCBI36 |
| NG_008217.1:g.94621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446050.7:c.1174G>A MANE Select | ENSP00000397373.2:p.Gly392Arg | |
| ENST00000295777.9:c.1174G>A | ENSP00000295777.5:p.Gly392Arg | |
| ENST00000446050.6:c.1174G>A | ENSP00000397373.2:p.Gly392Arg | |
| ENST00000466865.1:c.299G>A | ||
| ENST00000488374.5:n.370G>A | ||
| ENST00000494666.1:n.245G>A | ||
| NM_001122752.1:c.1174G>A | NP_001116224.1:p.Gly392Arg | |
| NM_005025.4:c.1174G>A | NP_005016.1:p.Gly392Arg | |
| XM_017006618.2:c.1174G>A | XP_016862107.1:p.Gly392Arg | |
| NM_001122752.2:c.1174G>A MANE Select | NP_001116224.1:p.Gly392Arg | |
| NM_005025.5:c.1174G>A | NP_005016.1:p.Gly392Arg |