HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186680580A>G , CM000663.2:g.186680580A>G | GRCh38 |
NC_000001.10:g.186649712A>G , CM000663.1:g.186649712A>G | GRCh37 |
NC_000001.9:g.184916335A>G | NCBI36 |
NG_028206.2:g.4848T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000680451.1:c.-114+124T>C | ENSP00000506242.1:n.-114+124T>C |