Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44814595G>A , CM000681.2:g.44814595G>A | GRCh38 |
| NC_000019.9:g.45317852G>A , CM000681.1:g.45317852G>A | GRCh37 |
| NC_000019.8:g.50009692G>A | NCBI36 |
| NG_007480.1:g.10515G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270233.12:c.922-9G>A MANE Select | ENSP00000270233.5:n.922-9G>A | |
| ENST00000611077.5:c.922-9G>A | ENSP00000481153.1:n.922-9G>A | |
| ENST00000270233.10:c.922-9G>A | ENSP00000270233.5:n.922-9G>A | |
| ENST00000589651.5:c.922-9G>A | ENSP00000476710.1:n.922-9G>A | |
| ENST00000590196.1:c.184-9G>A | ||
| ENST00000611077.4:c.922-9G>A | ENSP00000481153.1:n.922-9G>A | |
| NM_001013257.2:c.922-9G>A | NP_001013275.1:n.922-9G>A | |
| NM_005581.4:c.922-9G>A | NP_005572.2:n.922-9G>A | |
| NM_005581.5:c.922-9G>A MANE Select | NP_005572.2:n.922-9G>A |