Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213513C= , CM000667.2:g.1213513C= | GRCh38 |
| NC_000005.9:g.1213628C= , CM000667.1:g.1213628C= | GRCh37 |
| NC_000005.8:g.1266628C= | NCBI36 |
| NG_008282.1:g.16919C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.714C= MANE Select | ENSP00000305302.10:p.Leu238= | |
| ENST00000304460.10:c.714C= | ENSP00000305302.10:p.Leu238= | |
| ENST00000515652.5:c.622C= | ENSP00000425701.1:p.His208= | |
| NM_001003841.2:c.714C= | NP_001003841.1:p.Leu238= | |
| NM_001003841.3:c.714C= MANE Select | NP_001003841.1:p.Leu238= |