Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4379510A>G , CM000674.2:g.4379510A>G | GRCh38 |
| NC_000012.11:g.4488676A>G , CM000674.1:g.4488676A>G | GRCh37 |
| NC_000012.10:g.4358937A>G | NCBI36 |
| NG_007087.1:g.5219T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020638.3:c.73T>C MANE Select | NP_065689.1:p.Tyr25His |
| ENST00000237837.2:c.73T>C MANE Select | ENSP00000237837.1:p.Tyr25His |
| NM_020638.2:c.73T>C | NP_065689.1:p.Tyr25His |
| ENST00000237837.1:c.73T>C | ENSP00000237837.1:p.Tyr25His |
| ENST00000648100.1:c.*1967+13228A>G | ENSP00000497536.1:n.*1967+13228A>G |
| ENST00000674624.1:c.*1204+13228A>G | ENSP00000501898.1:n.*1204+13228A>G |