HGVS | Genome Assembly |
---|---|
NC_000005.10:g.173232779G>C , CM000667.2:g.173232779G>C | GRCh38 |
NC_000005.9:g.172659782G>C , CM000667.1:g.172659782G>C | GRCh37 |
NC_000005.8:g.172592388G>C | NCBI36 |
NG_013340.1:g.7534C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329198.5:c.765C>G MANE Select | ENSP00000327758.4:p.Ala255= | |
ENST00000329198.4:c.765C>G | ENSP00000327758.4:p.Ala255= | |
NM_001166175.1:c.*718C>G | NP_001159647.1:n.*718C>G | |
NM_001166176.1:c.*564C>G | NP_001159648.1:n.*564C>G | |
NM_004387.3:c.765C>G | NP_004378.1:p.Ala255= | |
NM_004387.4:c.765C>G MANE Select | NP_004378.1:p.Ala255= | |
NM_001166175.2:c.*718C>G | NP_001159647.1:n.*718C>G | |
NM_001166176.2:c.*564C>G | NP_001159648.1:n.*564C>G |