Linked Data
dbSNP Id:
rs751757590
ExAC:
10:81317330 G / A
gnomAD v2:
10-81317330-G-A
gnomAD v4:
10-79557574-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79557574G>A , CM000672.2:g.79557574G>A | GRCh38 |
| NC_000010.10:g.81317330G>A , CM000672.1:g.81317330G>A | GRCh37 |
| NG_013046.1:g.7834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372325.7:c.382C>T MANE Select | ENSP00000361400.2:p.Gln128Ter | |
| ENST00000372325.6:c.382C>T | ENSP00000361400.2:p.Gln128Ter | |
| ENST00000372327.9:c.382C>T | ENSP00000361402.5:p.Gln128Ter | |
| ENST00000417041.1:c.382C>T | ENSP00000397375.1:p.Gln128Ter | |
| NM_001098668.2:c.382C>T | NP_001092138.1:p.Gln128Ter | |
| XM_005270128.2:c.433C>T | XP_005270185.1:p.Gln145Ter | |
| XM_005270131.3:c.382C>T | XP_005270188.1:p.Gln128Ter | |
| XM_005270132.3:c.382C>T | XP_005270189.1:p.Gln128Ter | |
| XM_011540124.1:c.382C>T | XP_011538426.1:p.Gln128Ter | |
| XM_011540125.1:c.382C>T | XP_011538427.1:p.Gln128Ter | |
| NM_001098668.3:c.382C>T | NP_001092138.1:p.Gln128Ter | |
| NM_001320813.1:c.382C>T | NP_001307742.1:p.Gln128Ter | |
| NM_001320814.1:c.412C>T | NP_001307743.1:p.Gln138Ter | |
| XM_005270128.3:c.433C>T | XP_005270185.1:p.Gln145Ter | |
| XM_017016608.1:c.382C>T | XP_016872097.1:p.Gln128Ter | |
| NM_001098668.4:c.382C>T MANE Select | NP_001092138.1:p.Gln128Ter | |
| NM_001320813.2:c.382C>T | NP_001307742.1:p.Gln128Ter |