HGVS | Genome Assembly |
---|---|
NC_000012.12:g.54280451A>G , CM000674.2:g.54280451A>G | GRCh38 |
NC_000012.11:g.54674235A>G , CM000674.1:g.54674235A>G | GRCh37 |
NC_000012.10:g.52960502A>G | NCBI36 |
NG_033830.1:g.4748A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546500.5:c.-357A>G | ENSP00000448617.1:n.-357A>G |