HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7668191G>A , CM000679.2:g.7668191G>A | GRCh38 |
NC_000017.10:g.7571509G>A , CM000679.1:g.7571509G>A | GRCh37 |
NC_000017.9:g.7512234G>A | NCBI36 |
NG_017013.2:g.24360C>T , LRG_321:g.24360C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000359597.8:c.994-1947C>T | ENSP00000352610.4:n.994-1947C>T | |
ENST00000413465.6:c.782+5990C>T | ENSP00000410739.2:n.782+5990C>T | |
ENST00000635293.1:c.984-766C>T | ENSP00000488924.1:n.984-766C>T |