Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5233813G>T , CM000671.2:g.5233813G>T | GRCh38 |
| NC_000009.11:g.5233813G>T , CM000671.1:g.5233813G>T | GRCh37 |
| NC_000009.10:g.5223813G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002195.2:c.356G>T MANE Select | NP_002186.1:p.Arg119Ile |
| ENST00000239316.4:c.356G>T MANE Select | ENSP00000239316.4:p.Arg119Ile |
| NM_002195.1:c.356G>T | NP_002186.1:p.Arg119Ile |