Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329654G= , CM000677.2:g.73329654G= | GRCh38 |
| NC_000015.9:g.73621995G= , CM000677.1:g.73621995G= | GRCh37 |
| NC_000015.8:g.71409048G= | NCBI36 |
| NG_009063.1:g.44611C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.1509C= MANE Select | ENSP00000261917.3:p.Ala503= | |
| ENST00000261917.3:c.1509C= | ENSP00000261917.3:p.Ala503= | |
| NM_005477.2:c.1509C= | NP_005468.1:p.Ala503= | |
| XM_011521148.1:c.291C= | XP_011519450.1:p.Ala97= | |
| XM_011521148.2:c.291C= | XP_011519450.1:p.Ala97= | |
| NM_005477.3:c.1509C= MANE Select | NP_005468.1:p.Ala503= |