HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4631534T>C , CM000679.2:g.4631534T>C | GRCh38 |
NC_000017.10:g.4534829T>C , CM000679.1:g.4534829T>C | GRCh37 |
NC_000017.9:g.4481578T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293761.8:c.*66A>G MANE Select | ENSP00000293761.3:n.*66A>G | |
ENST00000570836.6:c.*66A>G | ENSP00000458832.1:n.*66A>G | |
ENST00000293761.7:c.*66A>G | ENSP00000293761.3:n.*66A>G | |
ENST00000570836.5:c.*66A>G | ENSP00000458832.1:n.*66A>G | |
ENST00000574640.1:c.*66A>G | ENSP00000460483.1:n.*66A>G | |
NM_001140.3:c.*66A>G | NP_001131.3:n.*66A>G | |
NM_001140.4:c.*66A>G | NP_001131.3:n.*66A>G | |
NM_001140.5:c.*66A>G MANE Select | NP_001131.3:n.*66A>G |