Linked Data
ClinVar Variation Id:
1430470
ClinVar RCV Id:
RCV001931509
dbSNP Id:
rs202216406
ExAC:
8:38091971 G / T
gnomAD v2:
8-38091971-G-T
gnomAD v3:
8-38234453-G-T
gnomAD v4:
8-38234453-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38234453G>T , CM000670.2:g.38234453G>T | GRCh38 |
| NC_000008.10:g.38091971G>T , CM000670.1:g.38091971G>T | GRCh37 |
| NC_000008.9:g.38211128G>T | NCBI36 |
| NG_033875.1:g.7963G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397166.7:c.280G>T MANE Select | ENSP00000380352.2:p.Gly94Trp | |
| ENST00000397166.6:c.280G>T | ENSP00000380352.2:p.Gly94Trp | |
| ENST00000519857.5:n.477G>T | ||
| ENST00000520272.6:c.280G>T | ENSP00000429932.2:p.Gly94Trp | |
| ENST00000526237.5:c.220+1239G>T | ENSP00000436994.1:n.220+1239G>T | |
| ENST00000526370.1:n.433G>T | ||
| ENST00000527415.5:c.190G>T | ENSP00000432024.1:p.Gly64Trp | |
| ENST00000527834.5:c.280G>T | ENSP00000432433.1:p.Gly94Trp | |
| ENST00000528358.5:c.274G>T | ENSP00000433118.1:p.Gly92Trp | |
| ENST00000529642.1:c.-9G>T | ENSP00000436444.1:n.-9G>T | |
| ENST00000532222.5:c.280G>T | ENSP00000433578.1:p.Gly94Trp | |
| ENST00000533100.5:c.280G>T | ENSP00000432678.1:p.Gly94Trp | |
| NM_001164232.1:c.280G>T | NP_001157704.1:p.Gly94Trp | |
| NM_001164234.1:c.280G>T | NP_001157706.1:p.Gly94Trp | |
| NM_015214.2:c.280G>T | NP_056029.2:p.Gly94Trp | |
| XM_005273454.1:c.280G>T | XP_005273511.1:p.Gly94Trp | |
| XM_005273455.2:c.280G>T | XP_005273512.1:p.Gly94Trp | |
| XM_005273456.2:c.280G>T | XP_005273513.1:p.Gly94Trp | |
| XM_011544455.1:c.280G>T | XP_011542757.1:p.Gly94Trp | |
| XM_011544456.1:c.280G>T | XP_011542758.1:p.Gly94Trp | |
| XR_247123.1:n.805G>T | ||
| XR_949383.1:n.805G>T | ||
| XR_949384.1:n.805G>T | ||
| XR_949385.1:n.805G>T | ||
| XR_949386.1:n.805G>T | ||
| XR_949387.1:n.805G>T | ||
| NM_001362911.1:c.280G>T | NP_001349840.1:p.Gly94Trp | |
| NM_001362912.1:c.280G>T | NP_001349841.1:p.Gly94Trp | |
| NM_001362913.1:c.280G>T | NP_001349842.1:p.Gly94Trp | |
| NM_001362914.1:c.280G>T | NP_001349843.1:p.Gly94Trp | |
| NR_156416.1:n.657G>T | ||
| NR_156417.1:n.657G>T | ||
| XM_011544456.2:c.280G>T | XP_011542758.1:p.Gly94Trp | |
| XM_017013255.2:c.-706G>T | XP_016868744.1:n.-706G>T | |
| XR_001745504.2:n.563G>T | ||
| XR_001745506.2:n.563G>T | ||
| NM_001362911.2:c.280G>T | NP_001349840.1:p.Gly94Trp | |
| NM_001362912.2:c.280G>T | NP_001349841.1:p.Gly94Trp | |
| NM_015214.3:c.280G>T MANE Select | NP_056029.2:p.Gly94Trp | |
| NR_156417.2:n.563G>T | ||
| NM_001164232.2:c.280G>T | NP_001157704.1:p.Gly94Trp | |
| NM_001164234.2:c.280G>T | NP_001157706.1:p.Gly94Trp | |
| NM_001362913.2:c.280G>T | NP_001349842.1:p.Gly94Trp | |
| NM_001362914.2:c.280G>T | NP_001349843.1:p.Gly94Trp | |
| NR_156416.2:n.563G>T |