Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632870G>A , CM000670.2:g.86632870G>A | GRCh38 |
| NC_000008.10:g.87645098G>A , CM000670.1:g.87645098G>A | GRCh37 |
| NC_000008.9:g.87714214G>A | NCBI36 |
| NG_016980.1:g.115806C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1202C>T MANE Select | ENSP00000316605.5:p.Ala401Val | |
| ENST00000681546.1:n.1022C>T | ||
| ENST00000681746.1:c.1202C>T | ENSP00000505959.1:p.Ala401Val | |
| ENST00000320005.5:c.1202C>T | ENSP00000316605.5:p.Ala401Val | |
| NM_019098.4:c.1202C>T | NP_061971.3:p.Ala401Val | |
| XM_011517138.1:c.788C>T | XP_011515440.1:p.Ala263Val | |
| XM_011517138.2:c.788C>T | XP_011515440.1:p.Ala263Val | |
| NM_019098.5:c.1202C>T MANE Select | NP_061971.3:p.Ala401Val |