Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16148915T>A , CM000663.2:g.16148915T>A | GRCh38 |
| NC_000001.10:g.16475410T>A , CM000663.1:g.16475410T>A | GRCh37 |
| NC_000001.9:g.16347997T>A | NCBI36 |
| NG_021396.1:g.12173A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.286A>T MANE Select | NP_004422.2:p.Ile96Phe |
| ENST00000358432.8:c.286A>T MANE Select | ENSP00000351209.5:p.Ile96Phe |
| NM_001329090.1:c.124A>T | NP_001316019.1:p.Ile42Phe |
| NM_001329090.2:c.124A>T | NP_001316019.1:p.Ile42Phe |
| NM_004431.3:c.286A>T | NP_004422.2:p.Ile96Phe |
| NM_004431.4:c.286A>T | NP_004422.2:p.Ile96Phe |
| ENST00000358432.7:c.286A>T | ENSP00000351209.5:p.Ile96Phe |
| ENST00000461614.1:n.338A>T | |
| XM_017000537.1:c.286A>T | XP_016856026.1:p.Ile96Phe |