Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.142741856C>T , CM000670.2:g.142741856C>T | GRCh38 |
| NC_000008.10:g.143823274C>T , CM000670.1:g.143823274C>T | GRCh37 |
| NC_000008.9:g.143820276C>T | NCBI36 |
| NG_011494.1:g.5556G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020427.3:c.125G>A MANE Select | NP_065160.1:p.Arg42His |
| ENST00000246515.2:c.125G>A MANE Select | ENSP00000246515.1:p.Arg42His |
| NM_020427.2:c.125G>A | NP_065160.1:p.Arg42His |
| ENST00000246515.1:c.125G>A | ENSP00000246515.1:p.Arg42His |