HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43946207A>G , CM000684.2:g.43946207A>G | GRCh38 |
NC_000022.10:g.44342087A>G , CM000684.1:g.44342087A>G | GRCh37 |
NC_000022.9:g.42673420A>G | NCBI36 |
NG_008631.1:g.27469A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216180.8:c.1271A>G MANE Select | ENSP00000216180.3:p.Asp424Gly | |
ENST00000216180.7:c.1271A>G | ENSP00000216180.3:p.Asp424Gly | |
ENST00000406117.6:c.*849+1412A>G | ENSP00000384668.2:n.*849+1412A>G | |
ENST00000423180.2:c.1259A>G | ENSP00000397987.2:p.Asp420Gly | |
NM_025225.2:c.1271A>G | NP_079501.2:p.Asp424Gly | |
NM_025225.3:c.1271A>G MANE Select | NP_079501.2:p.Asp424Gly |