HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94989172G>T , CM000672.2:g.94989172G>T | GRCh38 |
NC_000010.10:g.96748929G>T , CM000672.1:g.96748929G>T | GRCh37 |
NC_000010.9:g.96738919G>T | NCBI36 |
NG_008385.1:g.55515G>T | |
NG_008385.2:g.56015G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.*144G>T MANE Select | ENSP00000260682.6:n.*144G>T | |
ENST00000643112.1:c.*626G>T | ENSP00000496202.1:n.*626G>T | |
ENST00000260682.6:c.*144G>T | ENSP00000260682.6:n.*144G>T | |
NM_000771.3:c.*144G>T | NP_000762.2:n.*144G>T | |
NM_000771.4:c.*144G>T MANE Select | NP_000762.2:n.*144G>T |