HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114709508C= , CM000663.2:g.114709508C= | GRCh38 |
NC_000001.10:g.115252129C= , CM000663.1:g.115252129C= | GRCh37 |
NC_000001.9:g.115053652C= | NCBI36 |
NG_007572.1:g.12387G= , LRG_92:g.12387G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.450+61G= MANE Select | ENSP00000358548.4:n.450+61G= | |
ENST00000369535.4:c.450+61G= | ENSP00000358548.4:n.450+61G= | |
NM_002524.4:c.450+61G= | NP_002515.1:n.450+61G= | |
NM_002524.5:c.450+61G= MANE Select | NP_002515.1:n.450+61G= |