HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94989025C>T , CM000672.2:g.94989025C>T | GRCh38 |
NC_000010.10:g.96748782C>T , CM000672.1:g.96748782C>T | GRCh37 |
NC_000010.9:g.96738772C>T | NCBI36 |
NG_008385.1:g.55368C>T | |
NG_008385.2:g.55868C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1470C>T MANE Select | ENSP00000260682.6:p.Val490= | |
ENST00000643112.1:c.*479C>T | ENSP00000496202.1:n.*479C>T | |
ENST00000260682.6:c.1470C>T | ENSP00000260682.6:p.Val490= | |
NM_000771.3:c.1470C>T | NP_000762.2:p.Val490= | |
NM_000771.4:c.1470C>T MANE Select | NP_000762.2:p.Val490= |