HGVS | Genome Assembly |
---|---|
NC_000005.10:g.63962190C>A , CM000667.2:g.63962190C>A | GRCh38 |
NC_000005.9:g.63258017C>A , CM000667.1:g.63258017C>A | GRCh37 |
NC_000005.8:g.63293773C>A | NCBI36 |
NG_032816.1:g.5103G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000323865.5:c.-471G>T MANE Select | ENSP00000316244.4:n.-471G>T | |
ENST00000506598.1:c.-387-84G>T | ENSP00000423433.1:n.-387-84G>T | |
NM_000524.3:c.-471G>T | NP_000515.2:n.-471G>T | |
NM_000524.4:c.-471G>T MANE Select | NP_000515.2:n.-471G>T |