Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2281460G>A , CM000678.2:g.2281460G>A | GRCh38 |
| NC_000016.9:g.2331461G>A , CM000678.1:g.2331461G>A | GRCh37 |
| NC_000016.8:g.2271462G>A | NCBI36 |
| NG_011790.1:g.64287C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.4085C>T MANE Select | NP_001080.2:p.Ala1362Val |
| ENST00000301732.10:c.4085C>T MANE Select | ENSP00000301732.5:p.Ala1362Val |
| NM_001089.2:c.4085C>T | NP_001080.2:p.Ala1362Val |
| ENST00000301732.9:c.4085C>T | ENSP00000301732.5:p.Ala1362Val |
| ENST00000382381.7:c.3911C>T | ENSP00000371818.3:p.Ala1304Val |
| ENST00000566200.1:n.606C>T | |
| ENST00000569062.1:n.833C>T |