HGVS | Genome Assembly |
---|---|
NC_000011.10:g.72243853G>T , CM000673.2:g.72243853G>T | GRCh38 |
NC_000011.9:g.71954897G>T , CM000673.1:g.71954897G>T | GRCh37 |
NC_000011.8:g.71632545G>T | NCBI36 |
NG_008169.1:g.5324C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298231.5:c.152C>A MANE Select | ENSP00000298231.5:p.Ala51Glu | |
ENST00000544057.1:n.85+1727C>A | ||
NM_005169.3:c.152C>A | NP_005160.2:p.Ala51Glu | |
NM_005169.4:c.152C>A MANE Select | NP_005160.2:p.Ala51Glu |