Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35577894A>T , CM000679.2:g.35577894A>T | GRCh38 |
| NC_000017.10:g.33904913A>T , CM000679.1:g.33904913A>T | GRCh37 |
| NC_000017.9:g.30929026A>T | NCBI36 |
| NG_008447.1:g.5744T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000286.3:c.126+2T>A MANE Select | NP_000277.1:n.126+2T>A |
| ENST00000225873.9:c.126+2T>A MANE Select | ENSP00000225873.3:n.126+2T>A |
| NM_000286.2:c.126+2T>A | NP_000277.1:n.126+2T>A |
| ENST00000225873.8:c.126+2T>A | ENSP00000225873.3:n.126+2T>A |
| ENST00000585380.1:c.126+2T>A | ENSP00000466280.1:n.126+2T>A |
| ENST00000586663.1:c.126+2T>A | ENSP00000466894.1:n.126+2T>A |
| ENST00000586663.2:c.126+2T>A | ENSP00000466894.2:n.126+2T>A |
| ENST00000613219.4:c.126+2T>A | ENSP00000482609.1:n.126+2T>A |