HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132556924T>G , CM000667.2:g.132556924T>G | GRCh38 |
NC_000005.9:g.131892616T>G , CM000667.1:g.131892616T>G | GRCh37 |
NC_000005.8:g.131920515T>G | NCBI36 |
NG_021151.1:g.5001T>G | |
NG_021151.2:g.4948T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000638452.2:c.-168-2360T>G | ENSP00000492349.2:n.-168-2360T>G | |
ENST00000638504.1:n.207-2360T>G | ||
ENST00000638568.2:c.-169+451T>G | ENSP00000491158.2:n.-169+451T>G | |
ENST00000639899.1:n.290-2360T>G | ||
ENST00000640655.2:c.-168-2360T>G | ENSP00000491596.2:n.-168-2360T>G | |
ENST00000416135.5:c.-169+451T>G | ENSP00000389515.1:n.-169+451T>G | |
NM_005732.3:c.-401T>G | NP_005723.2:n.-401T>G |