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