Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61952972G>A , CM000679.2:g.61952972G>A | GRCh38 |
| NC_000017.10:g.60030333G>A , CM000679.1:g.60030333G>A | GRCh37 |
| NC_000017.9:g.57385115G>A | NCBI36 |
| NG_046948.1:g.117340C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005121.3:c.6110C>T MANE Select | NP_005112.2:p.Ala2037Val |
| ENST00000397786.7:c.6110C>T MANE Select | ENSP00000380888.2:p.Ala2037Val |
| NM_005121.2:c.6110C>T | NP_005112.2:p.Ala2037Val |
| ENST00000397786.6:c.6110C>T | ENSP00000380888.2:p.Ala2037Val |
| XM_011525551.1:c.5951C>T | XP_011523853.1:p.Ala1984Val |
| XM_011525551.2:c.5951C>T | XP_011523853.1:p.Ala1984Val |
| XM_011525553.1:c.5441C>T | XP_011523855.1:p.Ala1814Val |
| XM_011525553.3:c.5441C>T | XP_011523855.1:p.Ala1814Val |
| XM_011525554.1:c.3779C>T | XP_011523856.1:p.Ala1260Val |