HGVS | Genome Assembly |
---|---|
NC_000010.11:g.4797975G>A , CM000672.2:g.4797975G>A | GRCh38 |
NC_000010.10:g.4840167G>A , CM000672.1:g.4840167G>A | GRCh37 |
NC_000010.9:g.4830167G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000462718.7:n.52+11215G>A | ||
ENST00000533295.5:c.-27+11215G>A | ENSP00000435436.1:n.-27+11215G>A |