HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189050637G>C , CM000664.2:g.189050637G>C | GRCh38 |
NC_000002.11:g.189915363G>C , CM000664.1:g.189915363G>C | GRCh37 |
NC_000002.10:g.189623608G>C | NCBI36 |
NG_011799.1:g.134243C>G | |
NG_011799.2:g.134243C>G | |
NG_011799.3:g.179665C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374866.9:c.2971C>G MANE Select | ENSP00000364000.3:p.Gln991Glu | |
ENST00000374866.7:c.2971C>G | ENSP00000364000.3:p.Gln991Glu | |
ENST00000618828.1:c.1810C>G | ENSP00000482184.1:p.Gln604Glu | |
NM_000393.3:c.2971C>G | NP_000384.2:p.Gln991Glu | |
XM_011510573.1:c.2833C>G | XP_011508875.1:p.Gln945Glu | |
NM_000393.4:c.2971C>G | NP_000384.2:p.Gln991Glu | |
XM_011510573.3:c.2833C>G | XP_011508875.1:p.Gln945Glu | |
NM_000393.5:c.2971C>G MANE Select | NP_000384.2:p.Gln991Glu |