Linked Data
dbSNP Id:
rs183194798
ExAC:
10:81319123 G / C
gnomAD v2:
10-81319123-G-C
gnomAD v4:
10-79559367-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79559367G>C , CM000672.2:g.79559367G>C | GRCh38 |
| NC_000010.10:g.81319123G>C , CM000672.1:g.81319123G>C | GRCh37 |
| NG_013046.1:g.6041C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372325.7:c.117C>G MANE Select | ENSP00000361400.2:p.His39Gln | |
| ENST00000372325.6:c.117C>G | ENSP00000361400.2:p.His39Gln | |
| ENST00000372327.9:c.117C>G | ENSP00000361402.5:p.His39Gln | |
| ENST00000417041.1:c.117C>G | ENSP00000397375.1:p.His39Gln | |
| ENST00000492049.1:c.117C>G | ENSP00000473275.1:p.His39Gln | |
| NM_001098668.2:c.117C>G | NP_001092138.1:p.His39Gln | |
| XM_005270128.2:c.168C>G | XP_005270185.1:p.His56Gln | |
| XM_005270131.3:c.117C>G | XP_005270188.1:p.His39Gln | |
| XM_005270132.3:c.117C>G | XP_005270189.1:p.His39Gln | |
| XM_011540124.1:c.117C>G | XP_011538426.1:p.His39Gln | |
| XM_011540125.1:c.117C>G | XP_011538427.1:p.His39Gln | |
| NM_001098668.3:c.117C>G | NP_001092138.1:p.His39Gln | |
| NM_001320813.1:c.117C>G | NP_001307742.1:p.His39Gln | |
| NM_001320814.1:c.147C>G | NP_001307743.1:p.His49Gln | |
| XM_005270128.3:c.168C>G | XP_005270185.1:p.His56Gln | |
| XM_017016608.1:c.117C>G | XP_016872097.1:p.His39Gln | |
| NM_001098668.4:c.117C>G MANE Select | NP_001092138.1:p.His39Gln | |
| NM_001320813.2:c.117C>G | NP_001307742.1:p.His39Gln |