Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35577037C>T , CM000679.2:g.35577037C>T | GRCh38 |
| NC_000017.10:g.33904056C>T , CM000679.1:g.33904056C>T | GRCh37 |
| NC_000017.9:g.30928169C>T | NCBI36 |
| NG_008447.1:g.6601G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000286.3:c.680+1G>A MANE Select | NP_000277.1:n.680+1G>A |
| ENST00000225873.9:c.680+1G>A MANE Select | ENSP00000225873.3:n.680+1G>A |
| NM_000286.2:c.680+1G>A | NP_000277.1:n.680+1G>A |
| ENST00000225873.8:c.680+1G>A | ENSP00000225873.3:n.680+1G>A |
| ENST00000586663.1:c.680+1G>A | ENSP00000466894.1:n.680+1G>A |
| ENST00000586663.2:c.680+1G>A | ENSP00000466894.2:n.680+1G>A |
| ENST00000613219.4:c.680+1G>A | ENSP00000482609.1:n.680+1G>A |