Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22181583G>A , CM000680.2:g.22181583G>A | GRCh38 |
| NC_000018.9:g.19761544G>A , CM000680.1:g.19761544G>A | GRCh37 |
| NC_000018.8:g.18015542G>A | NCBI36 |
| NG_032677.1:g.17141G>A | |
| NG_032677.2:g.17147G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005257.6:c.1428+5G>A MANE Select | NP_005248.2:n.1428+5G>A |
| ENST00000269216.10:c.1428+5G>A MANE Select | ENSP00000269216.3:n.1428+5G>A |
| NM_005257.5:c.1428+5G>A | NP_005248.2:n.1428+5G>A |
| ENST00000269216.7:c.1428+5G>A | ENSP00000269216.3:n.1428+5G>A |
| ENST00000581694.1:c.1428+5G>A | ENSP00000462313.1:n.1428+5G>A |