Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36260036G>A , CM000680.2:g.36260036G>A | GRCh38 |
| NC_000018.9:g.33839999G>A , CM000680.1:g.33839999G>A | GRCh37 |
| NC_000018.8:g.32093997G>A | NCBI36 |
| NG_053177.1:g.77827G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.2271-1G>A MANE Select | NP_060417.4:n.2271-1G>A |
| ENST00000261326.6:c.2271-1G>A MANE Select | ENSP00000261326.4:n.2271-1G>A |
| NM_017947.2:c.2271-1G>A | NP_060417.2:n.2271-1G>A |
| NM_017947.3:c.2271-1G>A | NP_060417.3:n.2271-1G>A |
| ENST00000261326.5:c.2271-1G>A | ENSP00000261326.4:n.2271-1G>A |
| ENST00000588132.1:n.228-1G>A |