Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919590C>G , CM000679.2:g.74919590C>G | GRCh38 |
| NC_000017.10:g.72915685C>G , CM000679.1:g.72915685C>G | GRCh37 |
| NC_000017.9:g.70427280C>G | NCBI36 |
| NG_007882.1:g.8667G>C | |
| NG_033062.1:g.316C>G | |
| NG_007882.2:g.8674G>C | |
| NG_033062.2:g.316C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1246G>C MANE Select | ENSP00000480279.1:p.Glu416Gln | |
| ENST00000579243.1:c.*845G>C | ENSP00000462568.1:n.*845G>C | |
| ENST00000614341.4:c.1246G>C | ENSP00000480279.1:p.Glu416Gln | |
| NM_001282489.2:c.937G>C | NP_001269418.1:p.Glu313Gln | |
| NM_173477.4:c.1246G>C | NP_775748.2:p.Glu416Gln | |
| XM_011524296.1:c.937G>C | XP_011522598.1:p.Glu313Gln | |
| XM_011524296.2:c.937G>C | XP_011522598.1:p.Glu313Gln | |
| NM_173477.5:c.1246G>C MANE Select | NP_775748.2:p.Glu416Gln | |
| NM_001282489.3:c.937G>C | NP_001269418.1:p.Glu313Gln |