Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17395780G>A , CM000663.2:g.17395780G>A | GRCh38 |
| NC_000001.10:g.17722276G>A , CM000663.1:g.17722276G>A | GRCh37 |
| NC_000001.9:g.17594863G>A | NCBI36 |
| NG_032943.1:g.28535G>A | |
| NG_032943.2:g.28535G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.1618+117G>A MANE Select | ENSP00000483125.1:n.1618+117G>A | |
| NM_207421.4:c.1618+117G>A MANE Select | NP_997304.3:n.1618+117G>A |