Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7511871T>C , CM000679.2:g.7511871T>C | GRCh38 |
| NC_000017.10:g.7415190T>C , CM000679.1:g.7415190T>C | GRCh37 |
| NC_000017.9:g.7355914T>C | NCBI36 |
| NG_027747.1:g.32493T>C | |
| NG_027747.2:g.32493T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000937.5:c.4162T>C MANE Select | NP_000928.1:p.Phe1388Leu |
| NM_000937.4:c.4162T>C | NP_000928.1:p.Phe1388Leu |
| ENST00000576553.1:n.135T>C | |
| ENST00000617998.4:c.4162T>C | ENSP00000480158.1:p.Phe1388Leu |
| ENST00000617998.6:n.4561T>C | |
| ENST00000621442.4:c.4162T>C | ENSP00000483957.1:p.Phe1388Leu |
| ENST00000674977.2:c.4162T>C | ENSP00000502190.2:p.Phe1388Leu |