HGVS | Genome Assembly |
---|---|
NC_000011.10:g.36350133A>T , CM000673.2:g.36350133A>T | GRCh38 |
NC_000011.9:g.36371683A>T , CM000673.1:g.36371683A>T | GRCh37 |
NC_000011.8:g.36328259A>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000530639.6:c.-125-50864A>T MANE Select | ENSP00000435050.1:n.-125-50864A>T | |
ENST00000527172.5:c.-291-43713A>T | ENSP00000433708.1:n.-291-43713A>T | |
ENST00000529034.5:n.152-50864A>T | ||
ENST00000530639.5:c.-125-50864A>T | ENSP00000435050.1:n.-125-50864A>T | |
ENST00000532121.5:c.-126+68A>T | ENSP00000433893.1:n.-126+68A>T | |
NM_001160167.1:c.-125-50864A>T | NP_001153639.1:n.-125-50864A>T | |
NM_001160167.2:c.-125-50864A>T MANE Select | NP_001153639.1:n.-125-50864A>T |