HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186680574T>G , CM000663.2:g.186680574T>G | GRCh38 |
NC_000001.10:g.186649706T>G , CM000663.1:g.186649706T>G | GRCh37 |
NC_000001.9:g.184916329T>G | NCBI36 |
NG_028206.2:g.4854A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000680451.1:c.-114+130A>C | ENSP00000506242.1:n.-114+130A>C |