HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132556921T>C , CM000667.2:g.132556921T>C | GRCh38 |
NC_000005.9:g.131892613T>C , CM000667.1:g.131892613T>C | GRCh37 |
NC_000005.8:g.131920512T>C | NCBI36 |
NG_021151.1:g.4998T>C | |
NG_021151.2:g.4945T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000638452.2:c.-168-2363T>C | ENSP00000492349.2:n.-168-2363T>C | |
ENST00000638504.1:n.207-2363T>C | ||
ENST00000638568.2:c.-169+448T>C | ENSP00000491158.2:n.-169+448T>C | |
ENST00000639899.1:n.290-2363T>C | ||
ENST00000640655.2:c.-168-2363T>C | ENSP00000491596.2:n.-168-2363T>C | |
ENST00000416135.5:c.-169+448T>C | ENSP00000389515.1:n.-169+448T>C |