HGVS | Genome Assembly |
---|---|
NC_000022.11:g.21658442T>C , CM000684.2:g.21658442T>C | GRCh38 |
NC_000022.10:g.22012731T>C , CM000684.1:g.22012731T>C | GRCh37 |
NC_000022.9:g.20342731T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000641967.1:n.286+53T>C | ||
ENST00000498589.1:n.519T>C | ||
XM_017029165.1:c.654T>C | XP_016884654.1:p.Ser218= | |
NR_169729.1:n.1254T>C | ||
NR_169730.1:n.1157T>C | ||
NR_169731.1:n.432-2395T>C | ||
NR_169732.1:n.308T>C | ||
NR_169733.1:n.366T>C | ||
NR_169734.1:n.390T>C |