HGVS | Genome Assembly |
---|---|
NC_000012.12:g.52652135C>G , CM000674.2:g.52652135C>G | GRCh38 |
NC_000012.11:g.53045919C>G , CM000674.1:g.53045919C>G | GRCh37 |
NC_000012.10:g.51332186C>G | NCBI36 |
NG_008296.1:g.5041G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309680.4:c.8G>C MANE Select | ENSP00000310861.3:p.Cys3Ser | |
ENST00000309680.3:c.8G>C | ENSP00000310861.3:p.Cys3Ser | |
NM_000423.2:c.8G>C | NP_000414.2:p.Cys3Ser | |
NM_000423.3:c.8G>C MANE Select | NP_000414.2:p.Cys3Ser |