HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665814G>A , CM000679.2:g.39665814G>A | GRCh38 |
NC_000017.10:g.37822067G>A , CM000679.1:g.37822067G>A | GRCh37 |
NC_000017.9:g.35075593G>A | NCBI36 |
NG_008892.1:g.5469G>A , LRG_210:g.5469G>A | |
NG_042278.1:g.2834G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000309889.3:c.209G>A MANE Select | ENSP00000312624.2:p.Arg70Gln | |
ENST00000309889.2:c.209G>A | ENSP00000312624.2:p.Arg70Gln | |
ENST00000578283.1:c.174+35G>A | ENSP00000462787.1:n.174+35G>A | |
NM_003673.3:c.209G>A , LRG_210t1:c.209G>A | NP_003664.1:p.Arg70Gln | |
NM_003673.4:c.209G>A MANE Select | NP_003664.1:p.Arg70Gln |