HGVS | Genome Assembly |
---|---|
NC_000010.11:g.68231429C>T , CM000672.2:g.68231429C>T | GRCh38 |
NC_000010.10:g.69991186C>T , CM000672.1:g.69991186C>T | GRCh37 |
NC_000010.9:g.69661192C>T | NCBI36 |
NG_031934.1:g.5685G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373673.5:c.249G>A MANE Select | ENSP00000362777.3:p.Gln83= | |
ENST00000373673.4:c.249G>A | ENSP00000362777.3:p.Gln83= | |
NM_145178.3:c.249G>A | NP_660161.1:p.Gln83= | |
NM_145178.4:c.249G>A MANE Select | NP_660161.1:p.Gln83= |