HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47331993G>A , CM000673.2:g.47331993G>A | GRCh38 |
NC_000011.9:g.47353544G>A , CM000673.1:g.47353544G>A | GRCh37 |
NC_000011.8:g.47310120G>A | NCBI36 |
NG_007667.1:g.25710C>T , LRG_386:g.25710C>T | |
NG_029462.1:g.67618G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000545968.6:c.3814+79C>T MANE Select | ENSP00000442795.1:n.3814+79C>T | |
ENST00000256993.8:c.3814+79C>T | ENSP00000256993.5:n.3814+79C>T | |
ENST00000399249.6:c.3814+79C>T | ENSP00000382193.2:n.3814+79C>T | |
ENST00000545968.5:c.3814+79C>T | ENSP00000442795.1:n.3814+79C>T | |
NM_000256.3:c.3814+79C>T , LRG_386t1:c.3814+79C>T MANE Select | NP_000247.2:n.3814+79C>T | |
XM_011520117.1:c.3796+79C>T | XP_011518419.1:n.3796+79C>T | |
XM_011520118.1:c.3733+79C>T | XP_011518420.1:n.3733+79C>T |