Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030356T>A , CM000666.2:g.43030356T>A | GRCh38 |
| NC_000004.11:g.43032373T>A , CM000666.1:g.43032373T>A | GRCh37 |
| NC_000004.10:g.42727130T>A | NCBI36 |
| NG_027718.1:g.142091T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.694-5T>A MANE Select | NP_001073945.1:n.694-5T>A |
| ENST00000399770.3:c.694-5T>A MANE Select | ENSP00000382670.2:n.694-5T>A |
| NM_001080476.2:c.694-5T>A | NP_001073945.1:n.694-5T>A |
| ENST00000399770.2:c.694-5T>A | ENSP00000382670.2:n.694-5T>A |
| XM_011513691.1:c.331-5T>A | XP_011511993.1:n.331-5T>A |