HGVS | Genome Assembly |
---|---|
NC_000019.10:g.55153982C= , CM000681.2:g.55153982C= | GRCh38 |
NC_000019.9:g.55665350C= , CM000681.1:g.55665350C= | GRCh37 |
NC_000019.8:g.60357162C= | NCBI36 |
NG_007866.2:g.8751G= , LRG_432:g.8751G= | |
NG_011829.2:g.257G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344887.10:c.549+48G= MANE Select | ENSP00000341838.5:n.549+48G= | |
ENST00000665070.1:c.582+48G= | ENSP00000499482.1:n.582+48G= | |
ENST00000344887.9:c.549+48G= | ENSP00000341838.5:n.549+48G= | |
ENST00000585806.5:n.548+48G= | ||
ENST00000588882.1:c.474+48G= | ENSP00000466729.1:n.474+48G= | |
ENST00000589864.1:n.377+48G= | ||
NM_000363.4:c.549+48G= , LRG_432t1:c.549+48G= | NP_000354.4:n.549+48G= | |
NM_000363.5:c.549+48G= MANE Select | NP_000354.4:n.549+48G= |