HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52676318C>G , CM000674.2:g.52676318C>G | GRCh38 |
NC_000012.11:g.53070102C>G , CM000674.1:g.53070102C>G | GRCh37 |
NC_000012.10:g.51356369C>G | NCBI36 |
NG_008364.1:g.9090G>C | |
NG_008364.2:g.9090G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252244.3:c.1432G>C MANE Select | ENSP00000252244.3:p.Glu478Gln | |
ENST00000548765.1:n.506G>C | ||
NM_006121.3:c.1432G>C | NP_006112.3:p.Glu478Gln | |
NM_006121.4:c.1432G>C MANE Select | NP_006112.3:p.Glu478Gln |