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