Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22824122C>A , CM000677.2:g.22824122C>A | GRCh38 |
| NC_000015.9:g.23048946G>T , CM000677.1:g.23048946G>T | GRCh37 |
| NC_000015.8:g.20600387G>T | NCBI36 |
| NG_009056.1:g.42898C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_144599.5:c.873C>A MANE Select | NP_653200.2:p.Phe291Leu |
| ENST00000337435.9:c.873C>A MANE Select | ENSP00000337452.4:p.Phe291Leu |
| NM_001142275.1:c.648C>A | NP_001135747.1:p.Phe216Leu |
| NM_144599.4:c.873C>A | NP_653200.2:p.Phe291Leu |
| ENST00000337435.8:c.873C>A | ENSP00000337452.4:p.Phe291Leu |
| ENST00000437912.6:c.648C>A | ENSP00000393962.2:p.Phe216Leu |
| ENST00000559448.5:c.845C>A | |
| ENST00000561183.5:c.648C>A | ENSP00000453722.1:p.Phe216Leu |