Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1075728G>T , CM000673.2:g.1075728G>T | GRCh38 |
| NC_000011.9:g.1075728G>T , CM000673.1:g.1075728G>T | GRCh37 |
| NC_000011.8:g.1065728G>T | NCBI36 |
| NG_051929.1:g.5854G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361558.7:n.181G>T | ||
| ENST00000675028.1:c.154G>T | ENSP00000502432.1:p.Val52Phe | |
| NM_002457.3:c.154G>T | NP_002448.3:p.Val52Phe | |
| NM_002457.4:c.154G>T | NP_002448.4:p.Val52Phe |