HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94981217C>T , CM000672.2:g.94981217C>T | GRCh38 |
NC_000010.10:g.96740974C>T , CM000672.1:g.96740974C>T | GRCh37 |
NC_000010.9:g.96730964C>T | NCBI36 |
NG_008385.1:g.47560C>T | |
NG_008385.2:g.48060C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000260682.8:c.996C>T MANE Select | ENSP00000260682.6:p.Gly332= | |
ENST00000643112.1:c.*5C>T | ENSP00000496202.1:n.*5C>T | |
ENST00000260682.6:c.996C>T | ENSP00000260682.6:p.Gly332= | |
NM_000771.3:c.996C>T | NP_000762.2:p.Gly332= | |
NM_000771.4:c.996C>T MANE Select | NP_000762.2:p.Gly332= |