Linked Data
ClinVar Variation Id:
91981
ClinVar RCV Id:
RCV000122538
dbSNP Id:
rs386352331
gnomAD v2:
8-66605957-G-T
gnomAD v3:
8-65693722-G-T
gnomAD v4:
8-65693722-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.65693722G>T , CM000670.2:g.65693722G>T | GRCh38 |
| NC_000008.10:g.66605957G>T , CM000670.1:g.66605957G>T | GRCh37 |
| NC_000008.9:g.66768511G>T | NCBI36 |
| NG_047112.1:g.54850G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262146.9:c.244G>T MANE Select | ENSP00000262146.4:p.Val82Leu | |
| ENST00000262146.8:c.244G>T | ENSP00000262146.4:p.Val82Leu | |
| ENST00000424808.6:n.370G>T | ||
| ENST00000458689.2:c.145G>T | ENSP00000391502.2:p.Val49Leu | |
| ENST00000517944.5:n.363G>T | ||
| ENST00000518636.1:n.360G>T | ||
| ENST00000518800.5:c.117G>T | ||
| ENST00000522239.5:n.400G>T | ||
| ENST00000523170.5:n.446G>T | ||
| ENST00000523222.5:c.*107G>T | ENSP00000429450.1:n.*107G>T | |
| NM_001145838.1:c.145G>T | NP_001139310.1:p.Val49Leu | |
| NM_001145839.1:c.244G>T | NP_001139311.1:p.Val82Leu | |
| NM_014637.3:c.244G>T | NP_055452.3:p.Val82Leu | |
| XM_006716484.2:c.244G>T | XP_006716547.2:p.Val82Leu | |
| XM_011517626.1:c.244G>T | XP_011515928.1:p.Val82Leu | |
| XM_011517627.1:c.244G>T | XP_011515929.1:p.Val82Leu | |
| XM_011517628.1:c.205G>T | XP_011515930.1:p.Val69Leu | |
| XM_011517626.2:c.244G>T | XP_011515928.1:p.Val82Leu | |
| XM_011517627.3:c.244G>T | XP_011515929.1:p.Val82Leu | |
| XM_011517628.2:c.205G>T | XP_011515930.1:p.Val69Leu | |
| NM_014637.4:c.244G>T MANE Select | NP_055452.3:p.Val82Leu | |
| NM_001145839.2:c.244G>T | NP_001139311.1:p.Val82Leu |