Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71813567G>T , CM000677.2:g.71813567G>T | GRCh38 |
| NC_000015.9:g.72105907G>T , CM000677.1:g.72105907G>T | GRCh37 |
| NC_000015.8:g.69892961G>T | NCBI36 |
| NG_009113.2:g.8013G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.926G>T MANE Select | ENSP00000482504.1:p.Arg309Leu | |
| ENST00000617575.4:c.926G>T | ENSP00000482504.1:p.Arg309Leu | |
| ENST00000621098.1:c.926G>T | ENSP00000479962.1:p.Arg309Leu | |
| ENST00000621736.4:c.662G>T | ENSP00000479254.1:p.Arg221Leu | |
| NM_014249.3:c.926G>T | NP_055064.1:p.Arg309Leu | |
| NM_016346.3:c.926G>T | NP_057430.1:p.Arg309Leu | |
| XM_011521146.1:c.662G>T | XP_011519448.1:p.Arg221Leu | |
| NM_014249.4:c.926G>T MANE Select | NP_055064.1:p.Arg309Leu | |
| NM_016346.4:c.926G>T | NP_057430.1:p.Arg309Leu |