Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36195347G>A , CM000680.2:g.36195347G>A | GRCh38 |
| NC_000018.9:g.33775310G>A , CM000680.1:g.33775310G>A | GRCh37 |
| NC_000018.8:g.32029308G>A | NCBI36 |
| NG_053177.1:g.13138G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.232+1G>A MANE Select | NP_060417.4:n.232+1G>A |
| ENST00000261326.6:c.232+1G>A MANE Select | ENSP00000261326.4:n.232+1G>A |
| NM_017947.2:c.232+1G>A | NP_060417.2:n.232+1G>A |
| NM_017947.3:c.232+1G>A | NP_060417.3:n.232+1G>A |
| ENST00000261326.5:c.232+1G>A | ENSP00000261326.4:n.232+1G>A |