HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6534473C>T , CM000674.2:g.6534473C>T | GRCh38 |
NC_000012.11:g.6643639C>T , CM000674.1:g.6643639C>T | GRCh37 |
NC_000012.10:g.6513900C>T | NCBI36 |
NG_007073.2:g.4983C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229239.9:c.-120C>T | ENSP00000229239.5:n.-120C>T | |
NM_001289745.1:c.-212C>T | NP_001276674.1:n.-212C>T | |
NM_002046.5:c.-120C>T | NP_002037.2:n.-120C>T |