Linked Data
dbSNP Id:
rs374554993
gnomAD v2:
17-80223654-C-A
gnomAD v3:
17-82265778-C-A
gnomAD v4:
17-82265778-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82265778C>A , CM000679.2:g.82265778C>A | GRCh38 |
| NC_000017.10:g.80223654C>A , CM000679.1:g.80223654C>A | GRCh37 |
| NC_000017.9:g.77816943C>A | NCBI36 |
| NG_012828.1:g.12920G>T | |
| NG_012828.2:g.12965G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392334.7:c.95G>T | ENSP00000376146.2:p.Gly32Val | |
| ENST00000314028.11:c.95G>T MANE Select | ENSP00000324464.6:p.Gly32Val | |
| ENST00000314028.10:c.95G>T | ENSP00000324464.6:p.Gly32Val | |
| ENST00000392334.6:c.95G>T | ENSP00000376146.2:p.Gly32Val | |
| ENST00000398519.9:c.95G>T | ENSP00000381531.5:p.Gly32Val | |
| ENST00000403276.7:c.95G>T | ENSP00000385769.3:p.Gly32Val | |
| ENST00000578194.5:n.301G>T | ||
| ENST00000579308.1:n.120G>T | ||
| ENST00000579316.5:n.152G>T | ||
| ENST00000580061.5:n.95G>T | ||
| ENST00000580446.1:c.76+7528G>T | ENSP00000463757.1:n.76+7528G>T | |
| ENST00000581241.5:n.83G>T | ||
| ENST00000581660.5:c.*133G>T | ENSP00000464551.1:n.*133G>T | |
| ENST00000582844.5:n.53G>T | ||
| ENST00000584472.5:n.180G>T | ||
| ENST00000585026.1:c.*141G>T | ENSP00000462144.1:n.*141G>T | |
| NM_001893.4:c.95G>T | NP_001884.2:p.Gly32Val | |
| NM_139062.2:c.95G>T | NP_620693.1:p.Gly32Val | |
| NR_110578.1:n.456G>T | ||
| XM_005256336.2:c.95G>T | XP_005256393.1:p.Gly32Val | |
| XM_005256337.3:c.95G>T | XP_005256394.1:p.Gly32Val | |
| XR_243518.2:n.415G>T | ||
| XR_430028.2:n.415G>T | ||
| XR_933922.1:n.415G>T | ||
| XR_933923.1:n.415G>T | ||
| NM_001363749.1:c.95G>T | NP_001350678.1:p.Gly32Val | |
| NM_001893.5:c.95G>T | NP_001884.2:p.Gly32Val | |
| NM_139062.3:c.95G>T | NP_620693.1:p.Gly32Val | |
| NR_110578.2:n.464G>T | ||
| XM_005256336.4:c.95G>T | XP_005256393.1:p.Gly32Val | |
| XR_002957961.1:n.414G>T | ||
| XR_243518.4:n.414G>T | ||
| XR_430028.4:n.414G>T | ||
| XR_933922.3:n.414G>T | ||
| XR_933923.3:n.414G>T | ||
| NM_001363749.2:c.95G>T | NP_001350678.1:p.Gly32Val | |
| NM_001893.6:c.95G>T MANE Select | NP_001884.2:p.Gly32Val | |
| NM_139062.4:c.95G>T | NP_620693.1:p.Gly32Val |