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