Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98186900T= , CM000669.2:g.98186900T= | GRCh38 |
| NC_000007.13:g.97816212T= , CM000669.1:g.97816212T= | GRCh37 |
| NC_000007.12:g.97654148T= | NCBI36 |
| NG_013375.1:g.85016T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297293.6:c.900T= MANE Select | ENSP00000297293.5:p.Asp300= | |
| ENST00000297293.5:c.900T= | ENSP00000297293.5:p.Asp300= | |
| NM_014916.3:c.900T= | NP_055731.2:p.Asp300= | |
| XM_011515981.1:c.894T= | XP_011514283.1:p.Asp298= | |
| XM_011515981.3:c.894T= | XP_011514283.1:p.Asp298= | |
| NM_014916.4:c.900T= MANE Select | NP_055731.2:p.Asp300= |