Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10368940G>C , CM000673.2:g.10368940G>C | GRCh38 |
| NC_000011.9:g.10390487G>C , CM000673.1:g.10390487G>C | GRCh37 |
| NC_000011.8:g.10347063G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295663.9:n.51-23342G>C | ||
| ENST00000527261.5:n.501+38231G>C | ||
| ENST00000532250.5:c.-6+38231G>C | ENSP00000432707.1:n.-6+38231G>C | |
| ENST00000532966.1:n.119+11549G>C | ||
| NR_103765.1:n.501+38231G>C |