Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31001538G>T , CM000678.2:g.31001538G>T | GRCh38 |
| NC_000016.9:g.31012859G>T , CM000678.1:g.31012859G>T | GRCh37 |
| NC_000016.8:g.30920360G>T | NCBI36 |
| NG_041829.1:g.13971C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052874.5:c.96C>A MANE Select | NP_443106.1:p.Phe32Leu |
| ENST00000215095.11:c.96C>A MANE Select | ENSP00000215095.5:p.Phe32Leu |
| NM_052874.4:c.96C>A | NP_443106.1:p.Phe32Leu |
| ENST00000215095.9:c.96C>A | ENSP00000215095.5:p.Phe32Leu |
| ENST00000561836.1:n.202C>A | |
| ENST00000565419.1:c.96C>A | ENSP00000455899.1:p.Phe32Leu |
| ENST00000565419.2:c.96C>A | ENSP00000455899.1:p.Phe32Leu |
| XM_017022893.1:c.78C>A | XP_016878382.1:p.Phe26Leu |