HGVS | Genome Assembly |
---|---|
NC_000003.12:g.122120794G>C , CM000665.2:g.122120794G>C | GRCh38 |
NC_000003.11:g.121839641G>C , CM000665.1:g.121839641G>C | GRCh37 |
NC_000003.10:g.123322331G>C | NCBI36 |
NG_029928.1:g.70431G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000330540.7:c.*1260G>C MANE Select | ENSP00000332049.2:n.*1260G>C | |
ENST00000264468.9:c.*1260G>C | ENSP00000264468.6:n.*1260G>C | |
ENST00000330540.6:c.*1260G>C | ENSP00000332049.2:n.*1260G>C | |
NM_001206924.1:c.*1258G>C | NP_001193853.1:n.*1258G>C | |
NM_001206925.1:c.*1258G>C | NP_001193854.1:n.*1258G>C | |
NM_006889.4:c.*1258G>C | NP_008820.3:n.*1258G>C | |
NM_175862.4:c.*1258G>C | NP_787058.4:n.*1258G>C | |
NM_176892.1:c.*1258G>C | NP_795711.1:n.*1258G>C | |
NM_175862.5:c.*1260G>C MANE Select | NP_787058.5:n.*1260G>C | |
NM_001206924.2:c.*1260G>C | NP_001193853.2:n.*1260G>C | |
NM_001206925.2:c.*1260G>C | NP_001193854.2:n.*1260G>C | |
NM_006889.5:c.*1260G>C | NP_008820.4:n.*1260G>C | |
NM_176892.2:c.*1260G>C | NP_795711.2:n.*1260G>C |