Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853748G>A , CM000685.2:g.46853748G>A | GRCh38 |
| NC_000023.10:g.46713183G>A , CM000685.1:g.46713183G>A | GRCh37 |
| NC_000023.9:g.46598127G>A | NCBI36 |
| NG_009107.1:g.21837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.375G>A MANE Select | ENSP00000218340.3:p.Leu125= | |
| ENST00000218340.3:c.375G>A | ENSP00000218340.3:p.Leu125= | |
| NM_006915.2:c.375G>A | NP_008846.2:p.Leu125= | |
| NM_006915.3:c.375G>A MANE Select | NP_008846.2:p.Leu125= |