Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4370358G>T , CM000674.2:g.4370358G>T | GRCh38 |
| NC_000012.11:g.4479524G>T , CM000674.1:g.4479524G>T | GRCh37 |
| NC_000012.10:g.4349785G>T | NCBI36 |
| NG_007087.1:g.14371C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020638.3:c.741C>A MANE Select | NP_065689.1:p.Phe247Leu |
| ENST00000237837.2:c.741C>A MANE Select | ENSP00000237837.1:p.Phe247Leu |
| NM_020638.2:c.741C>A | NP_065689.1:p.Phe247Leu |
| ENST00000237837.1:c.741C>A | ENSP00000237837.1:p.Phe247Leu |
| ENST00000648100.1:c.*1967+4076G>T | ENSP00000497536.1:n.*1967+4076G>T |
| ENST00000674624.1:c.*1204+4076G>T | ENSP00000501898.1:n.*1204+4076G>T |