Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7511873T>G , CM000679.2:g.7511873T>G | GRCh38 |
| NC_000017.10:g.7415192T>G , CM000679.1:g.7415192T>G | GRCh37 |
| NC_000017.9:g.7355916T>G | NCBI36 |
| NG_027747.1:g.32495T>G | |
| NG_027747.2:g.32495T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.4164T>G MANE Select | NP_000928.1:p.Phe1388Leu |
| NM_000937.4:c.4164T>G | NP_000928.1:p.Phe1388Leu |
| ENST00000576553.1:n.137T>G | |
| ENST00000617998.4:c.4164T>G | ENSP00000480158.1:p.Phe1388Leu |
| ENST00000617998.6:n.4563T>G | |
| ENST00000621442.4:c.4164T>G | ENSP00000483957.1:p.Phe1388Leu |
| ENST00000674977.2:c.4164T>G | ENSP00000502190.2:p.Phe1388Leu |