HGVS | Genome Assembly |
---|---|
NC_000016.10:g.55707385T>G , CM000678.2:g.55707385T>G | GRCh38 |
NC_000016.9:g.55741297T>G , CM000678.1:g.55741297T>G | GRCh37 |
NC_000016.8:g.54298798T>G | NCBI36 |
NG_016969.1:g.56756T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000682050.1:c.*5592T>G | ENSP00000508367.1:n.*5592T>G |