HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520412C>A , CM000674.2:g.52520412C>A | GRCh38 |
NC_000012.11:g.52914196C>A , CM000674.1:g.52914196C>A | GRCh37 |
NC_000012.10:g.51200463C>A | NCBI36 |
NG_008297.1:g.5048G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.8:c.-116G>T | ENSP00000252242.4:n.-116G>T | |
ENST00000546577.1:c.-28G>T | ENSP00000449651.1:n.-28G>T | |
NM_000424.3:c.-116G>T | NP_000415.2:n.-116G>T |