Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4379421C>A , CM000674.2:g.4379421C>A | GRCh38 |
| NC_000012.11:g.4488587C>A , CM000674.1:g.4488587C>A | GRCh37 |
| NC_000012.10:g.4358848C>A | NCBI36 |
| NG_007087.1:g.5308G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.162G>T MANE Select | ENSP00000237837.1:p.Gln54His | |
| ENST00000648100.1:c.*1967+13139C>A | ENSP00000497536.1:n.*1967+13139C>A | |
| ENST00000674624.1:c.*1204+13139C>A | ENSP00000501898.1:n.*1204+13139C>A | |
| ENST00000237837.1:c.162G>T | ENSP00000237837.1:p.Gln54His | |
| NM_020638.2:c.162G>T | NP_065689.1:p.Gln54His | |
| NM_020638.3:c.162G>T MANE Select | NP_065689.1:p.Gln54His |