HGVS | Genome Assembly |
---|---|
NC_000011.10:g.10369007G>C , CM000673.2:g.10369007G>C | GRCh38 |
NC_000011.9:g.10390554G>C , CM000673.1:g.10390554G>C | GRCh37 |
NC_000011.8:g.10347130G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295663.9:n.51-23275G>C | ||
ENST00000527261.5:n.501+38298G>C | ||
ENST00000532250.5:c.-6+38298G>C | ENSP00000432707.1:n.-6+38298G>C | |
ENST00000532966.1:n.119+11616G>C | ||
NR_103765.1:n.501+38298G>C |