HGVS | Genome Assembly |
---|---|
NC_000011.10:g.36350045T>C , CM000673.2:g.36350045T>C | GRCh38 |
NC_000011.9:g.36371595T>C , CM000673.1:g.36371595T>C | GRCh37 |
NC_000011.8:g.36328171T>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000530639.6:c.-125-50952T>C MANE Select | ENSP00000435050.1:n.-125-50952T>C | |
ENST00000527172.5:c.-291-43801T>C | ENSP00000433708.1:n.-291-43801T>C | |
ENST00000529034.5:n.152-50952T>C | ||
ENST00000530639.5:c.-125-50952T>C | ENSP00000435050.1:n.-125-50952T>C | |
ENST00000532121.5:c.-146T>C | ENSP00000433893.1:n.-146T>C | |
NM_001160167.1:c.-125-50952T>C | NP_001153639.1:n.-125-50952T>C | |
NM_001160167.2:c.-125-50952T>C MANE Select | NP_001153639.1:n.-125-50952T>C |