HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583259C>T , CM000679.2:g.41583259C>T | GRCh38 |
NC_000017.10:g.39739511C>T , CM000679.1:g.39739511C>T | GRCh37 |
NC_000017.9:g.36993037C>T | NCBI36 |
NG_008624.1:g.8637G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000167586.7:c.1250G>A MANE Select | ENSP00000167586.6:p.Arg417His | |
ENST00000167586.6:c.1250G>A | ENSP00000167586.6:p.Arg417His | |
ENST00000441550.2:n.197G>A | ||
ENST00000476662.1:n.700G>A | ||
NM_000526.4:c.1250G>A | NP_000517.2:p.Arg417His | |
NM_000526.5:c.1250G>A MANE Select | NP_000517.3:p.Arg417His |