HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55153802G>A , CM000681.2:g.55153802G>A | GRCh38 |
NC_000019.9:g.55665170G>A , CM000681.1:g.55665170G>A | GRCh37 |
NC_000019.8:g.60356982G>A | NCBI36 |
NG_007866.2:g.8931C>T , LRG_432:g.8931C>T | |
NG_011829.2:g.437C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.549+228C>T MANE Select | ENSP00000341838.5:n.549+228C>T | |
ENST00000665070.1:c.582+228C>T | ENSP00000499482.1:n.582+228C>T | |
ENST00000344887.9:c.549+228C>T | ENSP00000341838.5:n.549+228C>T | |
ENST00000585806.5:n.548+228C>T | ||
ENST00000588882.1:c.474+228C>T | ENSP00000466729.1:n.474+228C>T | |
ENST00000589864.1:n.377+228C>T | ||
NM_000363.4:c.549+228C>T , LRG_432t1:c.549+228C>T | NP_000354.4:n.549+228C>T | |
NM_000363.5:c.549+228C>T MANE Select | NP_000354.4:n.549+228C>T |