Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50109495G>A , CM000674.2:g.50109495G>A | GRCh38 |
| NC_000012.11:g.50503278G>A , CM000674.1:g.50503278G>A | GRCh37 |
| NC_000012.10:g.48789545G>A | NCBI36 |
| NG_032155.1:g.2515G>A | |
| NG_032168.1:g.10677G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301149.8:c.1026G>A MANE Select | ENSP00000301149.3:p.Leu342= | |
| ENST00000301149.7:c.1026G>A | ENSP00000301149.3:p.Leu342= | |
| ENST00000548814.1:c.957G>A | ENSP00000446768.1:p.Leu319= | |
| NM_001257199.1:c.957G>A | NP_001244128.1:p.Leu319= | |
| NM_005276.3:c.1026G>A | NP_005267.2:p.Leu342= | |
| NM_005276.4:c.1026G>A MANE Select | NP_005267.2:p.Leu342= | |
| NM_001257199.2:c.957G>A | NP_001244128.1:p.Leu319= |