Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33944784G= , CM000667.2:g.33944784G= | GRCh38 |
| NC_000005.9:g.33944889G= , CM000667.1:g.33944889G= | GRCh37 |
| NC_000005.8:g.33980646G= | NCBI36 |
| NG_011691.2:g.44892C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.1457C= MANE Select | ENSP00000296589.4:p.Ala486= | |
| ENST00000296589.8:c.1457C= | ENSP00000296589.4:p.Ala486= | |
| NM_016180.4:c.1457C= | NP_057264.3:p.Ala486= | |
| XM_011514051.1:c.1055C= | XP_011512353.1:p.Ala352= | |
| NM_016180.5:c.1457C= MANE Select | NP_057264.4:p.Ala486= |