HGVS | Genome Assembly |
---|---|
NC_000005.10:g.173232569C>T , CM000667.2:g.173232569C>T | GRCh38 |
NC_000005.9:g.172659572C>T , CM000667.1:g.172659572C>T | GRCh37 |
NC_000005.8:g.172592178C>T | NCBI36 |
NG_013340.1:g.7744G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329198.5:c.975G>A MANE Select | ENSP00000327758.4:p.Ter325= | |
ENST00000329198.4:c.975G>A | ENSP00000327758.4:p.Ter325= | |
NM_001166175.1:c.*928G>A | NP_001159647.1:n.*928G>A | |
NM_001166176.1:c.*774G>A | NP_001159648.1:n.*774G>A | |
NM_004387.3:c.975G>A | NP_004378.1:p.Ter325= | |
NM_004387.4:c.975G>A MANE Select | NP_004378.1:p.Ter325= | |
NM_001166175.2:c.*928G>A | NP_001159647.1:n.*928G>A | |
NM_001166176.2:c.*774G>A | NP_001159648.1:n.*774G>A |