Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23427876T>A , CM000676.2:g.23427876T>A | GRCh38 |
| NC_000014.8:g.23897085T>A , CM000676.1:g.23897085T>A | GRCh37 |
| NC_000014.7:g.22966925T>A | NCBI36 |
| NG_007884.1:g.12786A>T , LRG_384:g.12786A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000257.4:c.1597A>T MANE Select | NP_000248.2:p.Ile533Phe |
| ENST00000355349.4:c.1597A>T MANE Select | ENSP00000347507.3:p.Ile533Phe |
| NM_000257.3:c.1597A>T | NP_000248.2:p.Ile533Phe |
| ENST00000355349.3:c.1597A>T | ENSP00000347507.3:p.Ile533Phe |
| XM_017021340.1:c.1597A>T | XP_016876829.1:p.Ile533Phe |
| XR_245686.3:n.1703A>T |