HGVS | Genome Assembly |
---|---|
NC_000011.10:g.118312692C>G , CM000673.2:g.118312692C>G | GRCh38 |
NC_000011.9:g.118183407C>G , CM000673.1:g.118183407C>G | GRCh37 |
NC_000011.8:g.117688617C>G | NCBI36 |
NG_007383.1:g.13113C>G , LRG_38:g.13113C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361763.9:c.178C>G MANE Select | ENSP00000354566.4:p.Gln60Glu | |
ENST00000361763.8:c.178C>G | ENSP00000354566.4:p.Gln60Glu | |
ENST00000526146.5:n.724C>G | ||
ENST00000528435.5:n.731C>G | ||
ENST00000528600.1:c.160C>G | ENSP00000433975.1:p.Gln54Glu | |
ENST00000529713.5:n.284C>G | ||
ENST00000531913.1:n.549C>G | ||
NM_000733.3:c.178C>G , LRG_38t1:c.178C>G | NP_000724.1:p.Gln60Glu | |
NM_000733.4:c.178C>G MANE Select | NP_000724.1:p.Gln60Glu |