Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.130208685G>A , CM000673.2:g.130208685G>A | GRCh38 |
| NC_000011.9:g.130078580G>A , CM000673.1:g.130078580G>A | GRCh37 |
| NC_000011.8:g.129583790G>A | NCBI36 |
| NG_012132.1:g.53899G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021978.4:c.2269+1G>A MANE Select | NP_068813.1:n.2269+1G>A |
| ENST00000278742.6:c.2269+1G>A MANE Select | ENSP00000278742.5:n.2269+1G>A |
| NM_021978.3:c.2269+1G>A | NP_068813.1:n.2269+1G>A |
| ENST00000278742.5:c.2269+1G>A | ENSP00000278742.5:n.2269+1G>A |