Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148915T= , CM000663.2:g.16148915T= | GRCh38 |
| NC_000001.10:g.16475410T= , CM000663.1:g.16475410T= | GRCh37 |
| NC_000001.9:g.16347997T= | NCBI36 |
| NG_021396.1:g.12173A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.286A= MANE Select | ENSP00000351209.5:p.Ile96= | |
| ENST00000358432.7:c.286A= | ENSP00000351209.5:p.Ile96= | |
| ENST00000461614.1:n.338A= | ||
| NM_004431.3:c.286A= | NP_004422.2:p.Ile96= | |
| NM_001329090.1:c.124A= | NP_001316019.1:p.Ile42= | |
| NM_004431.4:c.286A= | NP_004422.2:p.Ile96= | |
| XM_017000537.1:c.286A= | XP_016856026.1:p.Ile96= | |
| NM_004431.5:c.286A= MANE Select | NP_004422.2:p.Ile96= | |
| NM_001329090.2:c.124A= | NP_001316019.1:p.Ile42= |