Linked Data
dbSNP Id:
rs1484202328
gnomAD v2:
17-80223570-T-A
gnomAD v3:
17-82265694-T-A
gnomAD v4:
17-82265694-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82265694T>A , CM000679.2:g.82265694T>A | GRCh38 |
| NC_000017.10:g.80223570T>A , CM000679.1:g.80223570T>A | GRCh37 |
| NC_000017.9:g.77816859T>A | NCBI36 |
| NG_012828.1:g.13004A>T | |
| NG_012828.2:g.13049A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392334.7:c.179A>T | ENSP00000376146.2:p.Gln60Leu | |
| ENST00000314028.11:c.179A>T MANE Select | ENSP00000324464.6:p.Gln60Leu | |
| ENST00000314028.10:c.179A>T | ENSP00000324464.6:p.Gln60Leu | |
| ENST00000392334.6:c.179A>T | ENSP00000376146.2:p.Gln60Leu | |
| ENST00000398519.9:c.179A>T | ENSP00000381531.5:p.Gln60Leu | |
| ENST00000403276.7:c.179A>T | ENSP00000385769.3:p.Gln60Leu | |
| ENST00000578194.5:n.385A>T | ||
| ENST00000579308.1:n.204A>T | ||
| ENST00000579316.5:n.236A>T | ||
| ENST00000580061.5:n.179A>T | ||
| ENST00000580446.1:c.76+7612A>T | ENSP00000463757.1:n.76+7612A>T | |
| ENST00000581241.5:n.167A>T | ||
| ENST00000581660.5:c.*217A>T | ENSP00000464551.1:n.*217A>T | |
| ENST00000582844.5:n.137A>T | ||
| ENST00000584472.5:n.264A>T | ||
| ENST00000585026.1:c.*225A>T | ENSP00000462144.1:n.*225A>T | |
| NM_001893.4:c.179A>T | NP_001884.2:p.Gln60Leu | |
| NM_139062.2:c.179A>T | NP_620693.1:p.Gln60Leu | |
| NR_110578.1:n.540A>T | ||
| XM_005256336.2:c.179A>T | XP_005256393.1:p.Gln60Leu | |
| XM_005256337.3:c.179A>T | XP_005256394.1:p.Gln60Leu | |
| XR_243518.2:n.499A>T | ||
| XR_430028.2:n.499A>T | ||
| XR_933922.1:n.499A>T | ||
| XR_933923.1:n.499A>T | ||
| NM_001363749.1:c.179A>T | NP_001350678.1:p.Gln60Leu | |
| NM_001893.5:c.179A>T | NP_001884.2:p.Gln60Leu | |
| NM_139062.3:c.179A>T | NP_620693.1:p.Gln60Leu | |
| NR_110578.2:n.548A>T | ||
| XM_005256336.4:c.179A>T | XP_005256393.1:p.Gln60Leu | |
| XR_002957961.1:n.498A>T | ||
| XR_243518.4:n.498A>T | ||
| XR_430028.4:n.498A>T | ||
| XR_933922.3:n.498A>T | ||
| XR_933923.3:n.498A>T | ||
| NM_001363749.2:c.179A>T | NP_001350678.1:p.Gln60Leu | |
| NM_001893.6:c.179A>T MANE Select | NP_001884.2:p.Gln60Leu | |
| NM_139062.4:c.179A>T | NP_620693.1:p.Gln60Leu |