HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39665917G>A , CM000679.2:g.39665917G>A | GRCh38 |
NC_000017.10:g.37822170G>A , CM000679.1:g.37822170G>A | GRCh37 |
NC_000017.9:g.35075696G>A | NCBI36 |
NG_008892.1:g.5572G>A , LRG_210:g.5572G>A | |
NG_042278.1:g.2937G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.312G>A MANE Select | ENSP00000312624.2:p.Glu104= | |
ENST00000309889.2:c.312G>A | ENSP00000312624.2:p.Glu104= | |
ENST00000578283.1:c.240G>A | ENSP00000462787.1:p.Glu80= | |
NM_003673.3:c.312G>A , LRG_210t1:c.312G>A | NP_003664.1:p.Glu104= | |
NM_003673.4:c.312G>A MANE Select | NP_003664.1:p.Glu104= |