HGVS | Genome Assembly |
---|---|
NC_000002.12:g.162267548T>C , CM000664.2:g.162267548T>C | GRCh38 |
NC_000002.11:g.163124058T>C , CM000664.1:g.163124058T>C | GRCh37 |
NC_000002.10:g.162832304T>C | NCBI36 |
NG_011495.1:g.55982A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697291.1:c.*2426A>G | ENSP00000513228.1:n.*2426A>G | |
ENST00000648433.1:c.2712A>G | ENSP00000496816.1:p.Glu904= | |
ENST00000649426.1:n.590A>G | ||
ENST00000649554.1:n.2439A>G | ||
ENST00000649979.2:c.2829A>G MANE Select | ENSP00000497271.1:p.Glu943= | |
ENST00000679938.1:c.2517A>G | ENSP00000505518.1:p.Glu839= | |
ENST00000263642.2:c.2829A>G | ENSP00000263642.2:p.Glu943= | |
NM_022168.3:c.2829A>G | NP_071451.2:p.Glu943= | |
XM_011511628.1:c.2112A>G | XP_011509930.1:p.Glu704= | |
NM_022168.4:c.2829A>G MANE Select | NP_071451.2:p.Glu943= |