Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044193G>T , CM000674.2:g.5044193G>T | GRCh38 |
| NC_000012.11:g.5153359G>T , CM000674.1:g.5153359G>T | GRCh37 |
| NC_000012.10:g.5023620G>T | NCBI36 |
| NG_012198.1:g.5275G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.46G>T MANE Select | ENSP00000252321.3:p.Val16Phe | |
| ENST00000252321.4:c.46G>T | ENSP00000252321.3:p.Val16Phe | |
| NM_002234.3:c.46G>T | NP_002225.2:p.Val16Phe | |
| NM_002234.4:c.46G>T MANE Select | NP_002225.2:p.Val16Phe |