HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154459C>T , CM000681.2:g.55154459C>T | GRCh38 |
NC_000019.9:g.55665827C>T , CM000681.1:g.55665827C>T | GRCh37 |
NC_000019.8:g.60357639C>T | NCBI36 |
NG_007866.2:g.8274G>A , LRG_432:g.8274G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.373-253G>A MANE Select | ENSP00000341838.5:n.373-253G>A | |
ENST00000665070.1:c.405+249G>A | ENSP00000499482.1:n.405+249G>A | |
ENST00000344887.9:c.373-253G>A | ENSP00000341838.5:n.373-253G>A | |
ENST00000585806.5:n.372-253G>A | ||
ENST00000586669.5:n.381-253G>A | ||
ENST00000587176.5:n.838G>A | ||
ENST00000588882.1:c.298-253G>A | ENSP00000466729.1:n.298-253G>A | |
NM_000363.4:c.373-253G>A , LRG_432t1:c.373-253G>A | NP_000354.4:n.373-253G>A | |
NM_000363.5:c.373-253G>A MANE Select | NP_000354.4:n.373-253G>A |