HGVS | Genome Assembly |
---|---|
NC_000015.10:g.65077561A>G , CM000677.2:g.65077561A>G | GRCh38 |
NC_000015.9:g.65369899A>G , CM000677.1:g.65369899A>G | GRCh37 |
NC_000015.8:g.63156952A>G | NCBI36 |
NG_021411.1:g.5746A>G , LRG_682:g.5746A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432196.5:c.746A>G MANE Select | ENSP00000388723.2:p.Tyr249Cys | |
ENST00000432196.3:c.746A>G | ENSP00000388723.2:p.Tyr249Cys | |
NM_001101362.2:c.746A>G , LRG_682t1:c.746A>G | NP_001094832.1:p.Tyr249Cys | |
NM_001101362.3:c.746A>G MANE Select | NP_001094832.1:p.Tyr249Cys |