HGVS | Genome Assembly |
---|---|
NC_000010.11:g.99851550A>G , CM000672.2:g.99851550A>G | GRCh38 |
NC_000010.10:g.101611307A>G , CM000672.1:g.101611307A>G | GRCh37 |
NC_000010.9:g.101601297A>G | NCBI36 |
NG_011798.1:g.73845A>G | |
NG_011798.2:g.73953A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000647814.1:c.4557A>G MANE Select | ENSP00000497274.1:p.Glu1519= | |
ENST00000648523.1:c.627A>G | ||
ENST00000370449.8:c.4557A>G | ENSP00000359478.4:p.Glu1519= | |
NM_000392.4:c.4557A>G | NP_000383.1:p.Glu1519= | |
XM_006717630.2:c.3861A>G | XP_006717693.1:p.Glu1287= | |
NM_000392.5:c.4557A>G MANE Select | NP_000383.2:p.Glu1519= | |
XM_006717630.3:c.3861A>G | XP_006717693.1:p.Glu1287= |