HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17393952A>G , CM000663.2:g.17393952A>G | GRCh38 |
NC_000001.10:g.17720448A>G , CM000663.1:g.17720448A>G | GRCh37 |
NC_000001.9:g.17593035A>G | NCBI36 |
NG_032943.1:g.26707A>G | |
NG_032943.2:g.26707A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000619609.1:c.1075-23A>G MANE Select | ENSP00000483125.1:n.1075-23A>G | |
NM_207421.4:c.1075-23A>G MANE Select | NP_997304.3:n.1075-23A>G |