HGVS | Genome Assembly |
---|---|
NC_000001.11:g.1535769C>G , CM000663.2:g.1535769C>G | GRCh38 |
NC_000001.10:g.1471149C>G , CM000663.1:g.1471149C>G | GRCh37 |
NC_000001.9:g.1461012C>G | NCBI36 |
NG_041807.1:g.9592G>C | |
NG_053035.1:g.28627C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378733.9:c.193G>C MANE Select | ENSP00000368007.4:p.Asp65His | |
ENST00000378733.8:c.193G>C | ENSP00000368007.4:p.Asp65His | |
ENST00000425828.1:c.193G>C | ENSP00000400311.1:p.Asp65His | |
NM_001114748.1:c.193G>C | NP_001108220.1:p.Asp65His | |
NM_001114748.2:c.193G>C MANE Select | NP_001108220.1:p.Asp65His |