HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112832740G>C , CM000664.2:g.112832740G>C | GRCh38 |
NC_000002.11:g.113590317G>C , CM000664.1:g.113590317G>C | GRCh37 |
NC_000002.10:g.113306788G>C | NCBI36 |
NG_008851.1:g.9040C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263341.7:c.388C>G MANE Select | ENSP00000263341.2:p.Gln130Glu | |
ENST00000263341.6:c.388C>G | ENSP00000263341.2:p.Gln130Glu | |
ENST00000418817.5:c.388C>G | ENSP00000407219.1:p.Gln130Glu | |
ENST00000487639.1:n.289C>G | ||
ENST00000491056.5:n.1195C>G | ||
NM_000576.2:c.388C>G | NP_000567.1:p.Gln130Glu | |
XM_006712496.1:c.154C>G | XP_006712559.1:p.Gln52Glu | |
XM_017003988.2:c.295C>G | XP_016859477.1:p.Gln99Glu | |
NM_000576.3:c.388C>G MANE Select | NP_000567.1:p.Gln130Glu |