Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329709G>A , CM000677.2:g.73329709G>A | GRCh38 |
| NC_000015.9:g.73622050G>A , CM000677.1:g.73622050G>A | GRCh37 |
| NC_000015.8:g.71409103G>A | NCBI36 |
| NG_009063.1:g.44556C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005477.3:c.1454C>T MANE Select | NP_005468.1:p.Ala485Val |
| ENST00000261917.4:c.1454C>T MANE Select | ENSP00000261917.3:p.Ala485Val |
| NM_005477.2:c.1454C>T | NP_005468.1:p.Ala485Val |
| ENST00000261917.3:c.1454C>T | ENSP00000261917.3:p.Ala485Val |
| XM_011521148.1:c.236C>T | XP_011519450.1:p.Ala79Val |
| XM_011521148.2:c.236C>T | XP_011519450.1:p.Ala79Val |