Linked Data
ClinVar Variation Id:
509434
dbSNP Id:
rs765050254
ExAC:
1:40766944 C / T
gnomAD v2:
1-40766944-C-T
gnomAD v3:
1-40301272-C-T
gnomAD v4:
1-40301272-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40301272C>T , CM000663.2:g.40301272C>T | GRCh38 |
| NC_000001.10:g.40766944C>T , CM000663.1:g.40766944C>T | GRCh37 |
| NC_000001.9:g.40539531C>T | NCBI36 |
| NG_008031.1:g.20996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372748.8:c.1980G>A MANE Select | ENSP00000361834.3:p.Leu660= | |
| ENST00000372748.7:c.1980G>A | ENSP00000361834.3:p.Leu660= | |
| ENST00000482722.5:n.2283G>A | ||
| NM_001852.3:c.1980G>A | NP_001843.1:p.Leu660= | |
| XM_006710365.2:c.1980G>A | XP_006710428.1:p.Leu660= | |
| XM_011540714.1:c.1992G>A | XP_011539016.1:p.Leu664= | |
| XM_011540715.1:c.1710G>A | XP_011539017.1:p.Leu570= | |
| XM_011540716.1:c.1710G>A | XP_011539018.1:p.Leu570= | |
| XM_011540717.1:c.1437G>A | XP_011539019.1:p.Leu479= | |
| XM_006710365.3:c.1980G>A | XP_006710428.1:p.Leu660= | |
| XM_011540715.2:c.1710G>A | XP_011539017.1:p.Leu570= | |
| XM_011540716.2:c.1710G>A | XP_011539018.1:p.Leu570= | |
| XM_011540717.2:c.1437G>A | XP_011539019.1:p.Leu479= | |
| XM_017000332.1:c.1992G>A | XP_016855821.1:p.Leu664= | |
| XM_017000333.1:c.1698G>A | XP_016855822.1:p.Leu566= | |
| NM_001852.4:c.1980G>A MANE Select | NP_001843.1:p.Leu660= |