Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102685964C>A , CM000672.2:g.102685964C>A | GRCh38 |
| NC_000010.10:g.104445721C>A , CM000672.1:g.104445721C>A | GRCh37 |
| NC_000010.9:g.104435711C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004311.4:c.353G>T MANE Select | NP_004302.1:p.Cys118Phe |
| ENST00000260746.6:c.353G>T MANE Select | ENSP00000260746.4:p.Cys118Phe |
| NM_004311.3:c.353G>T | NP_004302.1:p.Cys118Phe |
| ENST00000260746.5:c.353G>T | ENSP00000260746.4:p.Cys118Phe |
| XM_017016260.1:c.353G>T | XP_016871749.1:p.Cys118Phe |