HGVS | Genome Assembly |
---|---|
NC_000011.10:g.36350042A>C , CM000673.2:g.36350042A>C | GRCh38 |
NC_000011.9:g.36371592A>C , CM000673.1:g.36371592A>C | GRCh37 |
NC_000011.8:g.36328168A>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000530639.6:c.-125-50955A>C MANE Select | ENSP00000435050.1:n.-125-50955A>C | |
ENST00000527172.5:c.-291-43804A>C | ENSP00000433708.1:n.-291-43804A>C | |
ENST00000529034.5:n.152-50955A>C | ||
ENST00000530639.5:c.-125-50955A>C | ENSP00000435050.1:n.-125-50955A>C | |
ENST00000532121.5:c.-149A>C | ENSP00000433893.1:n.-149A>C | |
NM_001160167.1:c.-125-50955A>C | NP_001153639.1:n.-125-50955A>C | |
NM_001160167.2:c.-125-50955A>C MANE Select | NP_001153639.1:n.-125-50955A>C |