HGVS | Genome Assembly |
---|---|
NC_000022.11:g.20992903A>G , CM000684.2:g.20992903A>G | GRCh38 |
NC_000022.10:g.21347192A>G , CM000684.1:g.21347192A>G | GRCh37 |
NC_000022.9:g.19677192A>G | NCBI36 |
NG_034193.1:g.15635A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000700578.1:c.1259A>G | ENSP00000515073.1:p.Gln420Arg | |
ENST00000495142.6:n.604A>G | ||
ENST00000642151.1:c.1090A>G | ||
ENST00000643578.1:n.1281A>G | ||
ENST00000646124.2:c.1259A>G MANE Select | ENSP00000496779.1:p.Gln420Arg | |
ENST00000646506.1:n.838A>G | ||
ENST00000215739.12:c.1259A>G | ENSP00000215739.8:p.Gln420Arg | |
ENST00000479606.5:n.1405A>G | ||
ENST00000492480.1:n.309+6A>G | ||
NM_006767.3:c.1259A>G | NP_006758.2:p.Gln420Arg | |
NM_006767.4:c.1259A>G MANE Select | NP_006758.2:p.Gln420Arg |