HGVS | Genome Assembly |
---|---|
NC_000010.11:g.6011122C>A , CM000672.2:g.6011122C>A | GRCh38 |
NC_000010.10:g.6053085C>A , CM000672.1:g.6053085C>A | GRCh37 |
NC_000010.9:g.6093091C>A | NCBI36 |
NG_007403.1:g.56188G>T , LRG_73:g.56188G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379959.8:c.*1750G>T MANE Select | ENSP00000369293.3:n.*1750G>T | |
ENST00000649218.1:n.2384G>T | ||
ENST00000379959.7:c.*1750G>T | ENSP00000369293.3:n.*1750G>T | |
NM_000417.2:c.*1750G>T , LRG_73t1:c.*1750G>T | NP_000408.1:n.*1750G>T | |
NM_001308242.1:c.*1750G>T | NP_001295171.1:n.*1750G>T | |
NM_001308243.1:c.*1750G>T | NP_001295172.1:n.*1750G>T | |
NM_000417.3:c.*1750G>T MANE Select | NP_000408.1:n.*1750G>T | |
NM_001308242.2:c.*1750G>T | NP_001295171.1:n.*1750G>T | |
NM_001308243.2:c.*1750G>T | NP_001295172.1:n.*1750G>T |