HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186680587G>C , CM000663.2:g.186680587G>C | GRCh38 |
NC_000001.10:g.186649719G>C , CM000663.1:g.186649719G>C | GRCh37 |
NC_000001.9:g.184916342G>C | NCBI36 |
NG_028206.2:g.4841C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000680451.1:c.-114+117C>G | ENSP00000506242.1:n.-114+117C>G |