Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38427164G>T , CM000684.2:g.38427164G>T | GRCh38 |
| NC_000022.10:g.38823169G>T , CM000684.1:g.38823169G>T | GRCh37 |
| NC_000022.9:g.37153115G>T | NCBI36 |
| NG_050625.1:g.33036C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152868.3:c.969C>A MANE Select | NP_690607.1:p.Phe323Leu |
| ENST00000303592.3:c.969C>A MANE Select | ENSP00000306497.3:p.Phe323Leu |
| NM_004981.1:c.969C>A | NP_004972.1:p.Phe323Leu |
| NM_004981.2:c.969C>A | NP_004972.1:p.Phe323Leu |
| NM_152868.2:c.969C>A | NP_690607.1:p.Phe323Leu |
| XR_938252.1:n.309+2192G>T | |
| XR_938252.2:n.313+2192G>T |