Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143352008G>A , CM000669.2:g.143352008G>A | GRCh38 |
| NC_000007.13:g.143049101G>A , CM000669.1:g.143049101G>A | GRCh37 |
| NC_000007.12:g.142759223G>A | NCBI36 |
| NG_009815.1:g.40883G>A | |
| NG_009815.2:g.40883G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.*43G>A | ENSP00000498052.2:n.*43G>A | |
| ENST00000343257.7:c.*43G>A MANE Select | ENSP00000339867.2:n.*43G>A | |
| ENST00000343257.6:c.*43G>A | ENSP00000339867.2:n.*43G>A | |
| XM_011515781.1:c.*43G>A | XP_011514083.1:n.*43G>A | |
| XM_011515782.1:c.*43G>A | XP_011514084.1:n.*43G>A | |
| XM_011515782.2:c.*43G>A | XP_011514084.1:n.*43G>A | |
| XM_017011739.1:c.*43G>A | XP_016867228.1:n.*43G>A | |
| XM_017011740.1:c.*43G>A | XP_016867229.1:n.*43G>A | |
| NM_000083.3:c.*43G>A MANE Select | NP_000074.3:n.*43G>A | |
| NR_046453.2:n.2965G>A |