HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48476772A>G , CM000675.2:g.48476772A>G | GRCh38 |
NC_000013.10:g.49050908A>G , CM000675.1:g.49050908A>G | GRCh37 |
NC_000013.9:g.47948909A>G | NCBI36 |
NG_009009.1:g.178026A>G , LRG_517:g.178026A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2592A>G MANE Select | ENSP00000267163.4:p.Glu864= | |
ENST00000643064.1:c.194+95329A>G | ||
ENST00000650461.1:c.2592A>G | ENSP00000497193.1:p.Glu864= | |
ENST00000267163.4:c.2592A>G | ENSP00000267163.4:p.Glu864= | |
ENST00000484879.1:n.326A>G | ||
ENST00000531171.5:n.195A>G | ||
NM_000321.2:c.2592A>G , LRG_517t1:c.2592A>G | NP_000312.2:p.Glu864= | |
XM_011535171.1:c.2331A>G | XP_011533473.1:p.Glu777= | |
XM_011535171.2:c.2331A>G | XP_011533473.1:p.Glu777= | |
NM_000321.3:c.2592A>G MANE Select | NP_000312.2:p.Glu864= |