Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153737252G>A , CM000685.2:g.153737252G>A | GRCh38 |
| NC_000023.10:g.153002706G>A , CM000685.1:g.153002706G>A | GRCh37 |
| NC_000023.9:g.152655900G>A | NCBI36 |
| NG_009022.2:g.17385G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1488+1G>A MANE Select | NP_000024.2:n.1488+1G>A |
| ENST00000218104.6:c.1488+1G>A MANE Select | ENSP00000218104.3:n.1488+1G>A |
| NM_000033.3:c.1488+1G>A | NP_000024.2:n.1488+1G>A |
| ENST00000218104.5:c.1488+1G>A | ENSP00000218104.3:n.1488+1G>A |
| ENST00000443684.2:n.491+1G>A | |
| XR_938507.1:n.1960+1G>A | |
| XR_938507.2:n.1960+1G>A |