Linked Data
dbSNP Id:
rs752166349
ExAC:
17:80223574 T / A
gnomAD v2:
17-80223574-T-A
gnomAD v4:
17-82265698-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82265698T>A , CM000679.2:g.82265698T>A | GRCh38 |
| NC_000017.10:g.80223574T>A , CM000679.1:g.80223574T>A | GRCh37 |
| NC_000017.9:g.77816863T>A | NCBI36 |
| NG_012828.1:g.13000A>T | |
| NG_012828.2:g.13045A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392334.7:c.175A>T | ENSP00000376146.2:p.Met59Leu | |
| ENST00000314028.11:c.175A>T MANE Select | ENSP00000324464.6:p.Met59Leu | |
| ENST00000314028.10:c.175A>T | ENSP00000324464.6:p.Met59Leu | |
| ENST00000392334.6:c.175A>T | ENSP00000376146.2:p.Met59Leu | |
| ENST00000398519.9:c.175A>T | ENSP00000381531.5:p.Met59Leu | |
| ENST00000403276.7:c.175A>T | ENSP00000385769.3:p.Met59Leu | |
| ENST00000578194.5:n.381A>T | ||
| ENST00000579308.1:n.200A>T | ||
| ENST00000579316.5:n.232A>T | ||
| ENST00000580061.5:n.175A>T | ||
| ENST00000580446.1:c.76+7608A>T | ENSP00000463757.1:n.76+7608A>T | |
| ENST00000581241.5:n.163A>T | ||
| ENST00000581660.5:c.*213A>T | ENSP00000464551.1:n.*213A>T | |
| ENST00000582844.5:n.133A>T | ||
| ENST00000584472.5:n.260A>T | ||
| ENST00000585026.1:c.*221A>T | ENSP00000462144.1:n.*221A>T | |
| NM_001893.4:c.175A>T | NP_001884.2:p.Met59Leu | |
| NM_139062.2:c.175A>T | NP_620693.1:p.Met59Leu | |
| NR_110578.1:n.536A>T | ||
| XM_005256336.2:c.175A>T | XP_005256393.1:p.Met59Leu | |
| XM_005256337.3:c.175A>T | XP_005256394.1:p.Met59Leu | |
| XR_243518.2:n.495A>T | ||
| XR_430028.2:n.495A>T | ||
| XR_933922.1:n.495A>T | ||
| XR_933923.1:n.495A>T | ||
| NM_001363749.1:c.175A>T | NP_001350678.1:p.Met59Leu | |
| NM_001893.5:c.175A>T | NP_001884.2:p.Met59Leu | |
| NM_139062.3:c.175A>T | NP_620693.1:p.Met59Leu | |
| NR_110578.2:n.544A>T | ||
| XM_005256336.4:c.175A>T | XP_005256393.1:p.Met59Leu | |
| XR_002957961.1:n.494A>T | ||
| XR_243518.4:n.494A>T | ||
| XR_430028.4:n.494A>T | ||
| XR_933922.3:n.494A>T | ||
| XR_933923.3:n.494A>T | ||
| NM_001363749.2:c.175A>T | NP_001350678.1:p.Met59Leu | |
| NM_001893.6:c.175A>T MANE Select | NP_001884.2:p.Met59Leu | |
| NM_139062.4:c.175A>T | NP_620693.1:p.Met59Leu |