HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55154427G>T , CM000681.2:g.55154427G>T | GRCh38 |
NC_000019.9:g.55665795G>T , CM000681.1:g.55665795G>T | GRCh37 |
NC_000019.8:g.60357607G>T | NCBI36 |
NG_007866.2:g.8306C>A , LRG_432:g.8306C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.373-221C>A MANE Select | ENSP00000341838.5:n.373-221C>A | |
ENST00000665070.1:c.406-221C>A | ENSP00000499482.1:n.406-221C>A | |
ENST00000344887.9:c.373-221C>A | ENSP00000341838.5:n.373-221C>A | |
ENST00000585806.5:n.372-221C>A | ||
ENST00000586669.5:n.381-221C>A | ||
ENST00000587176.5:n.870C>A | ||
ENST00000588882.1:c.298-221C>A | ENSP00000466729.1:n.298-221C>A | |
NM_000363.4:c.373-221C>A , LRG_432t1:c.373-221C>A | NP_000354.4:n.373-221C>A | |
NM_000363.5:c.373-221C>A MANE Select | NP_000354.4:n.373-221C>A |