HGVS | Genome Assembly |
---|---|
NC_000017.11:g.39666001G>A , CM000679.2:g.39666001G>A | GRCh38 |
NC_000017.10:g.37822254G>A , CM000679.1:g.37822254G>A | GRCh37 |
NC_000017.9:g.35075780G>A | NCBI36 |
NG_008892.1:g.5656G>A , LRG_210:g.5656G>A | |
NG_042278.1:g.3021G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309889.3:c.396G>A MANE Select | ENSP00000312624.2:p.Glu132= | |
ENST00000309889.2:c.396G>A | ENSP00000312624.2:p.Glu132= | |
ENST00000578283.1:c.324G>A | ENSP00000462787.1:p.Glu108= | |
NM_003673.3:c.396G>A , LRG_210t1:c.396G>A | NP_003664.1:p.Glu132= | |
NM_003673.4:c.396G>A MANE Select | NP_003664.1:p.Glu132= |