HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52520408G>A , CM000674.2:g.52520408G>A | GRCh38 |
NC_000012.11:g.52914192G>A , CM000674.1:g.52914192G>A | GRCh37 |
NC_000012.10:g.51200459G>A | NCBI36 |
NG_008297.1:g.5052C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252242.8:c.-112C>T | ENSP00000252242.4:n.-112C>T | |
ENST00000546577.1:c.-24C>T | ENSP00000449651.1:n.-24C>T | |
NM_000424.3:c.-112C>T | NP_000415.2:n.-112C>T |