HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94949231G>C , CM000672.2:g.94949231G>C | GRCh38 |
NC_000010.10:g.96708988G>C , CM000672.1:g.96708988G>C | GRCh37 |
NC_000010.9:g.96698978G>C | NCBI36 |
NG_008385.1:g.15574G>C | |
NG_008385.2:g.16074G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.766G>C MANE Select | ENSP00000260682.6:p.Asp256His | |
ENST00000643112.1:c.766G>C | ENSP00000496202.1:p.Asp256His | |
ENST00000260682.6:c.766G>C | ENSP00000260682.6:p.Asp256His | |
ENST00000473496.1:n.537G>C | ||
NM_000771.3:c.766G>C | NP_000762.2:p.Asp256His | |
NM_000771.4:c.766G>C MANE Select | NP_000762.2:p.Asp256His |