HGVS | Genome Assembly |
---|---|
NC_000001.11:g.43255323A>G , CM000663.2:g.43255323A>G | GRCh38 |
NC_000001.10:g.43720994A>G , CM000663.1:g.43720994A>G | GRCh37 |
NC_000001.9:g.43493581A>G | NCBI36 |
NG_028079.2:g.87994A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000461557.2:n.108+6519T>C | ||
ENST00000466927.5:n.69+6519T>C |