HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94989022T>G , CM000672.2:g.94989022T>G | GRCh38 |
NC_000010.10:g.96748779T>G , CM000672.1:g.96748779T>G | GRCh37 |
NC_000010.9:g.96738769T>G | NCBI36 |
NG_008385.1:g.55365T>G | |
NG_008385.2:g.55865T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000260682.8:c.1467T>G MANE Select | ENSP00000260682.6:p.Pro489= | |
ENST00000643112.1:c.*476T>G | ENSP00000496202.1:n.*476T>G | |
ENST00000260682.6:c.1467T>G | ENSP00000260682.6:p.Pro489= | |
NM_000771.3:c.1467T>G | NP_000762.2:p.Pro489= | |
NM_000771.4:c.1467T>G MANE Select | NP_000762.2:p.Pro489= |