HGVS | Genome Assembly |
---|---|
NC_000004.12:g.54228523A>G , CM000666.2:g.54228523A>G | GRCh38 |
NC_000004.11:g.55094690A>G , CM000666.1:g.55094690A>G | GRCh37 |
NC_000004.10:g.54789447A>G | NCBI36 |
NG_009250.1:g.4427A>G , LRG_309:g.4427A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000507166.5:c.1018-46402A>G | ENSP00000423325.1:n.1018-46402A>G |