HGVS | Genome Assembly |
---|---|
NC_000010.11:g.68231303C>G , CM000672.2:g.68231303C>G | GRCh38 |
NC_000010.10:g.69991060C>G , CM000672.1:g.69991060C>G | GRCh37 |
NC_000010.9:g.69661066C>G | NCBI36 |
NG_031934.1:g.5811G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373673.5:c.375G>C MANE Select | ENSP00000362777.3:p.Pro125= | |
ENST00000373673.4:c.375G>C | ENSP00000362777.3:p.Pro125= | |
NM_145178.3:c.375G>C | NP_660161.1:p.Pro125= | |
NM_145178.4:c.375G>C MANE Select | NP_660161.1:p.Pro125= |