HGVS | Genome Assembly |
---|---|
NC_000016.10:g.2326012C>G , CM000678.2:g.2326012C>G | GRCh38 |
NC_000016.9:g.2376013C>G , CM000678.1:g.2376013C>G | GRCh37 |
NC_000016.8:g.2316014C>G | NCBI36 |
NG_011790.1:g.19735G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301732.10:c.317G>C MANE Select | ENSP00000301732.5:p.Arg106Pro | |
ENST00000301732.9:c.317G>C | ENSP00000301732.5:p.Arg106Pro | |
ENST00000382381.7:c.317G>C | ENSP00000371818.3:p.Arg106Pro | |
ENST00000563623.5:n.880G>C | ||
ENST00000567910.1:c.317G>C | ENSP00000454397.1:p.Arg106Pro | |
NM_001089.2:c.317G>C | NP_001080.2:p.Arg106Pro | |
NM_001089.3:c.317G>C MANE Select | NP_001080.2:p.Arg106Pro |