HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320310G>C , CM000667.2:g.159320310G>C | GRCh38 |
NC_000005.9:g.158747318G>C , CM000667.1:g.158747318G>C | GRCh37 |
NC_000005.8:g.158679896G>C | NCBI36 |
NG_009618.1:g.15164C>G , LRG_71:g.15164C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.63C>G | ENSP00000512849.1:p.Asp21Glu | |
ENST00000696751.1:c.*188C>G | ENSP00000512850.1:n.*188C>G | |
ENST00000231228.3:c.693C>G MANE Select | ENSP00000231228.2:p.Asp231Glu | |
ENST00000231228.2:c.693C>G | ENSP00000231228.2:p.Asp231Glu | |
NM_002187.2:c.693C>G , LRG_71t1:c.693C>G | NP_002178.2:p.Asp231Glu | |
NM_002187.3:c.693C>G MANE Select | NP_002178.2:p.Asp231Glu |