HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154452T>C , CM000681.2:g.55154452T>C | GRCh38 |
NC_000019.9:g.55665820T>C , CM000681.1:g.55665820T>C | GRCh37 |
NC_000019.8:g.60357632T>C | NCBI36 |
NG_007866.2:g.8281A>G , LRG_432:g.8281A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.373-246A>G MANE Select | ENSP00000341838.5:n.373-246A>G | |
ENST00000665070.1:c.406-246A>G | ENSP00000499482.1:n.406-246A>G | |
ENST00000344887.9:c.373-246A>G | ENSP00000341838.5:n.373-246A>G | |
ENST00000585806.5:n.372-246A>G | ||
ENST00000586669.5:n.381-246A>G | ||
ENST00000587176.5:n.845A>G | ||
ENST00000588882.1:c.298-246A>G | ENSP00000466729.1:n.298-246A>G | |
NM_000363.4:c.373-246A>G , LRG_432t1:c.373-246A>G | NP_000354.4:n.373-246A>G | |
NM_000363.5:c.373-246A>G MANE Select | NP_000354.4:n.373-246A>G |