HGVS | Genome Assembly |
---|---|
NC_000017.11:g.7668316C>A , CM000679.2:g.7668316C>A | GRCh38 |
NC_000017.10:g.7571634C>A , CM000679.1:g.7571634C>A | GRCh37 |
NC_000017.9:g.7512359C>A | NCBI36 |
NG_017013.2:g.24235G>T , LRG_321:g.24235G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000359597.8:c.994-2072G>T | ENSP00000352610.4:n.994-2072G>T | |
ENST00000413465.6:c.782+5865G>T | ENSP00000410739.2:n.782+5865G>T | |
ENST00000635293.1:c.984-891G>T | ENSP00000488924.1:n.984-891G>T |