HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72243636G>T , CM000673.2:g.72243636G>T | GRCh38 |
NC_000011.9:g.71954680G>T , CM000673.1:g.71954680G>T | GRCh37 |
NC_000011.8:g.71632328G>T | NCBI36 |
NG_008169.1:g.5541C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298231.5:c.217+152C>A MANE Select | ENSP00000298231.5:n.217+152C>A | |
ENST00000544057.1:n.85+1944C>A | ||
NM_005169.3:c.217+152C>A | NP_005160.2:n.217+152C>A | |
NM_005169.4:c.217+152C>A MANE Select | NP_005160.2:n.217+152C>A |