HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72243611G>A , CM000673.2:g.72243611G>A | GRCh38 |
NC_000011.9:g.71954655G>A , CM000673.1:g.71954655G>A | GRCh37 |
NC_000011.8:g.71632303G>A | NCBI36 |
NG_008169.1:g.5566C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298231.5:c.217+177C>T MANE Select | ENSP00000298231.5:n.217+177C>T | |
ENST00000544057.1:n.85+1969C>T | ||
NM_005169.3:c.217+177C>T | NP_005160.2:n.217+177C>T | |
NM_005169.4:c.217+177C>T MANE Select | NP_005160.2:n.217+177C>T |