Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322903G= , CM000677.2:g.73322903G= | GRCh38 |
| NC_000015.9:g.73615244G= , CM000677.1:g.73615244G= | GRCh37 |
| NC_000015.8:g.71402297G= | NCBI36 |
| NG_009063.1:g.51362C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3190C= MANE Select | ENSP00000261917.3:p.Gln1064= | |
| ENST00000261917.3:c.3190C= | ENSP00000261917.3:p.Gln1064= | |
| NM_005477.2:c.3190C= | NP_005468.1:p.Gln1064= | |
| XM_011521148.1:c.1972C= | XP_011519450.1:p.Gln658= | |
| XM_011521148.2:c.1972C= | XP_011519450.1:p.Gln658= | |
| NM_005477.3:c.3190C= MANE Select | NP_005468.1:p.Gln1064= |