Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944784G>A , CM000667.2:g.33944784G>A | GRCh38 |
| NC_000005.9:g.33944889G>A , CM000667.1:g.33944889G>A | GRCh37 |
| NC_000005.8:g.33980646G>A | NCBI36 |
| NG_011691.2:g.44892C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016180.5:c.1457C>T MANE Select | NP_057264.4:p.Ala486Val |
| ENST00000296589.9:c.1457C>T MANE Select | ENSP00000296589.4:p.Ala486Val |
| NM_016180.4:c.1457C>T | NP_057264.3:p.Ala486Val |
| ENST00000296589.8:c.1457C>T | ENSP00000296589.4:p.Ala486Val |
| XM_011514051.1:c.1055C>T | XP_011512353.1:p.Ala352Val |