HGVS | Genome Assembly |
---|---|
NC_000010.11:g.68231430T>C , CM000672.2:g.68231430T>C | GRCh38 |
NC_000010.10:g.69991187T>C , CM000672.1:g.69991187T>C | GRCh37 |
NC_000010.9:g.69661193T>C | NCBI36 |
NG_031934.1:g.5684A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373673.5:c.248A>G MANE Select | ENSP00000362777.3:p.Gln83Arg | |
ENST00000373673.4:c.248A>G | ENSP00000362777.3:p.Gln83Arg | |
NM_145178.3:c.248A>G | NP_660161.1:p.Gln83Arg | |
NM_145178.4:c.248A>G MANE Select | NP_660161.1:p.Gln83Arg |