HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535758C>G , CM000663.2:g.1535758C>G | GRCh38 |
NC_000001.10:g.1471138C>G , CM000663.1:g.1471138C>G | GRCh37 |
NC_000001.9:g.1461001C>G | NCBI36 |
NG_041807.1:g.9603G>C | |
NG_053035.1:g.28616C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378733.9:c.204G>C MANE Select | ENSP00000368007.4:p.Gln68His | |
ENST00000378733.8:c.204G>C | ENSP00000368007.4:p.Gln68His | |
ENST00000425828.1:c.204G>C | ENSP00000400311.1:p.Gln68His | |
NM_001114748.1:c.204G>C | NP_001108220.1:p.Gln68His | |
NM_001114748.2:c.204G>C MANE Select | NP_001108220.1:p.Gln68His |