HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31200172C>A , CM000668.2:g.31200172C>A | GRCh38 |
NC_000006.11:g.31167949C>A , CM000668.1:g.31167949C>A | GRCh37 |
NC_000006.10:g.31275928C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000383331.4:c.124-2200C>A | ||
ENST00000414008.2:n.279C>A | ||
ENST00000424675.1:c.44+1991C>A | ||
NR_026791.1:n.124-2200C>A |