Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.45225556G>A , CM000665.2:g.45225556G>A | GRCh38 |
| NC_000003.11:g.45267048G>A , CM000665.1:g.45267048G>A | GRCh37 |
| NC_000003.10:g.45242052G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503771.2:c.472C>T MANE Select | ENSP00000422431.1:p.Arg158Trp | |
| ENST00000503771.1:c.472C>T | ENSP00000422431.1:p.Arg158Trp | |
| NM_015444.2:c.472C>T | NP_056259.2:p.Arg158Trp | |
| NM_015444.3:c.472C>T MANE Select | NP_056259.2:p.Arg158Trp |