HGVS | Genome Assembly |
---|---|
NC_000010.11:g.133527056G>C , CM000672.2:g.133527056G>C | GRCh38 |
NC_000010.10:g.135340560G>C , CM000672.1:g.135340560G>C | GRCh37 |
NC_000010.9:g.135190550G>C | NCBI36 |
NG_008383.1:g.4694G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463117.6:c.-40+183G>C | ENSP00000440689.1:n.-40+183G>C | |
ENST00000541261.1:c.-40+183G>C | ENSP00000437799.1:n.-40+183G>C |