HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445337G>A , CM000673.2:g.2445337G>A | GRCh38 |
NC_000011.9:g.2466567G>A , CM000673.1:g.2466567G>A | GRCh37 |
NC_000011.8:g.2423143G>A | NCBI36 |
NG_008935.1:g.5347G>A , LRG_287:g.5347G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496887.7:c.24-46G>A | ENSP00000434560.2:n.24-46G>A | |
ENST00000646564.2:c.239G>A | ENSP00000495806.2:p.Gly80Asp | |
ENST00000155840.12:c.239G>A MANE Select | ENSP00000155840.2:p.Gly80Asp | |
ENST00000155840.9:c.239G>A | ENSP00000155840.2:p.Gly80Asp | |
ENST00000345015.4:n.16G>A | ||
ENST00000496887.6:c.24-46G>A | ENSP00000434560.1:n.24-46G>A | |
NM_000218.2:c.239G>A , LRG_287t1:c.239G>A | NP_000209.2:p.Gly80Asp | |
NM_000218.3:c.239G>A MANE Select | NP_000209.2:p.Gly80Asp |