HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31200176T>C , CM000668.2:g.31200176T>C | GRCh38 |
NC_000006.11:g.31167953T>C , CM000668.1:g.31167953T>C | GRCh37 |
NC_000006.10:g.31275932T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000383331.4:c.124-2196T>C | ||
ENST00000414008.2:n.283T>C | ||
ENST00000424675.1:c.44+1995T>C | ||
NR_026791.1:n.124-2196T>C |