Linked Data
dbSNP Id:
rs200271989
ExAC:
17:80223676 G / T
gnomAD v2:
17-80223676-G-T
gnomAD v3:
17-82265800-G-T
gnomAD v4:
17-82265800-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82265800G>T , CM000679.2:g.82265800G>T | GRCh38 |
| NC_000017.10:g.80223676G>T , CM000679.1:g.80223676G>T | GRCh37 |
| NC_000017.9:g.77816965G>T | NCBI36 |
| NG_012828.1:g.12898C>A | |
| NG_012828.2:g.12943C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392334.7:c.77-4C>A | ENSP00000376146.2:n.77-4C>A | |
| ENST00000314028.11:c.77-4C>A MANE Select | ENSP00000324464.6:n.77-4C>A | |
| ENST00000314028.10:c.77-4C>A | ENSP00000324464.6:n.77-4C>A | |
| ENST00000392334.6:c.77-4C>A | ENSP00000376146.2:n.77-4C>A | |
| ENST00000398519.9:c.77-4C>A | ENSP00000381531.5:n.77-4C>A | |
| ENST00000403276.7:c.77-4C>A | ENSP00000385769.3:n.77-4C>A | |
| ENST00000578194.5:n.283-4C>A | ||
| ENST00000579308.1:n.102-4C>A | ||
| ENST00000579316.5:n.134-4C>A | ||
| ENST00000580061.5:n.77-4C>A | ||
| ENST00000580446.1:c.76+7506C>A | ENSP00000463757.1:n.76+7506C>A | |
| ENST00000581241.5:n.65-4C>A | ||
| ENST00000581660.5:c.*115-4C>A | ENSP00000464551.1:n.*115-4C>A | |
| ENST00000582844.5:n.35-4C>A | ||
| ENST00000584472.5:n.162-4C>A | ||
| ENST00000585026.1:c.*123-4C>A | ENSP00000462144.1:n.*123-4C>A | |
| NM_001893.4:c.77-4C>A | NP_001884.2:n.77-4C>A | |
| NM_139062.2:c.77-4C>A | NP_620693.1:n.77-4C>A | |
| NR_110578.1:n.438-4C>A | ||
| XM_005256336.2:c.77-4C>A | XP_005256393.1:n.77-4C>A | |
| XM_005256337.3:c.77-4C>A | XP_005256394.1:n.77-4C>A | |
| XR_243518.2:n.397-4C>A | ||
| XR_430028.2:n.397-4C>A | ||
| XR_933922.1:n.397-4C>A | ||
| XR_933923.1:n.397-4C>A | ||
| NM_001363749.1:c.77-4C>A | NP_001350678.1:n.77-4C>A | |
| NM_001893.5:c.77-4C>A | NP_001884.2:n.77-4C>A | |
| NM_139062.3:c.77-4C>A | NP_620693.1:n.77-4C>A | |
| NR_110578.2:n.446-4C>A | ||
| XM_005256336.4:c.77-4C>A | XP_005256393.1:n.77-4C>A | |
| XR_002957961.1:n.396-4C>A | ||
| XR_243518.4:n.396-4C>A | ||
| XR_430028.4:n.396-4C>A | ||
| XR_933922.3:n.396-4C>A | ||
| XR_933923.3:n.396-4C>A | ||
| NM_001363749.2:c.77-4C>A | NP_001350678.1:n.77-4C>A | |
| NM_001893.6:c.77-4C>A MANE Select | NP_001884.2:n.77-4C>A | |
| NM_139062.4:c.77-4C>A | NP_620693.1:n.77-4C>A |