Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963298G>A , CM000666.2:g.42963298G>A | GRCh38 |
| NC_000004.11:g.42965315G>A , CM000666.1:g.42965315G>A | GRCh37 |
| NC_000004.10:g.42660072G>A | NCBI36 |
| NG_027718.1:g.75033G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.627+164G>A MANE Select | ENSP00000382670.2:n.627+164G>A | |
| ENST00000399770.2:c.627+164G>A | ENSP00000382670.2:n.627+164G>A | |
| NM_001080476.2:c.627+164G>A | NP_001073945.1:n.627+164G>A | |
| XM_011513691.1:c.264+164G>A | XP_011511993.1:n.264+164G>A | |
| NM_001080476.3:c.627+164G>A MANE Select | NP_001073945.1:n.627+164G>A |