Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183208070G>A , CM000663.2:g.183208070G>A | GRCh38 |
| NC_000001.10:g.183177205G>A , CM000663.1:g.183177205G>A | GRCh37 |
| NC_000001.9:g.181443828G>A | NCBI36 |
| NG_007079.2:g.26807G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005562.3:c.268+1G>A MANE Select | NP_005553.2:n.268+1G>A |
| ENST00000264144.5:c.268+1G>A MANE Select | ENSP00000264144.4:n.268+1G>A |
| NM_005562.2:c.268+1G>A | NP_005553.2:n.268+1G>A |
| NM_018891.2:c.268+1G>A | NP_061486.2:n.268+1G>A |
| NM_018891.3:c.268+1G>A | NP_061486.2:n.268+1G>A |
| ENST00000264144.4:c.268+1G>A | ENSP00000264144.4:n.268+1G>A |
| ENST00000493293.5:c.268+1G>A | ENSP00000432063.1:n.268+1G>A |
| XM_017001273.2:c.268+1G>A | XP_016856762.1:n.268+1G>A |