HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132556937C>T , CM000667.2:g.132556937C>T | GRCh38 |
NC_000005.9:g.131892629C>T , CM000667.1:g.131892629C>T | GRCh37 |
NC_000005.8:g.131920528C>T | NCBI36 |
NG_021151.1:g.5014C>T | |
NG_021151.2:g.4961C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000638452.2:c.-168-2347C>T | ENSP00000492349.2:n.-168-2347C>T | |
ENST00000638504.1:n.207-2347C>T | ||
ENST00000638568.2:c.-169+464C>T | ENSP00000491158.2:n.-169+464C>T | |
ENST00000639899.1:n.290-2347C>T | ||
ENST00000640655.2:c.-168-2347C>T | ENSP00000491596.2:n.-168-2347C>T | |
ENST00000651541.1:c.-241C>T | ENSP00000498795.1:n.-241C>T | |
ENST00000416135.5:c.-169+464C>T | ENSP00000389515.1:n.-169+464C>T | |
NM_005732.3:c.-388C>T | NP_005723.2:n.-388C>T |