HGVS | Genome Assembly |
---|---|
NC_000006.12:g.117450229G>T , CM000668.2:g.117450229G>T | GRCh38 |
NC_000006.11:g.117771392G>T , CM000668.1:g.117771392G>T | GRCh37 |
NC_000006.10:g.117878085G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000467125.1:c.547+116625C>A | ENSP00000487717.1:n.547+116625C>A |