HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652089T>G , CM000674.2:g.52652089T>G | GRCh38 |
NC_000012.11:g.53045873T>G , CM000674.1:g.53045873T>G | GRCh37 |
NC_000012.10:g.51332140T>G | NCBI36 |
NG_008296.1:g.5087A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.54A>C MANE Select | ENSP00000310861.3:p.Gly18= | |
ENST00000309680.3:c.54A>C | ENSP00000310861.3:p.Gly18= | |
NM_000423.2:c.54A>C | NP_000414.2:p.Gly18= | |
NM_000423.3:c.54A>C MANE Select | NP_000414.2:p.Gly18= |