HGVS | Genome Assembly |
---|---|
NC_000024.10:g.13836347A>G , CM000686.2:g.13836347A>G | GRCh38 |
NC_000024.9:g.15948227A>G , CM000686.1:g.15948227A>G | GRCh37 |
NC_000024.8:g.14457621A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000652544.1:n.685-22170A>G | ||
ENST00000430079.5:n.478-18097A>G | ||
ENST00000460561.1:n.261-22170A>G | ||
ENST00000472227.5:n.399-22155A>G |