Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.11957540G>C , CM000686.2:g.11957540G>C | GRCh38 |
| NC_000024.9:g.14078246G>C , CM000686.1:g.14078246G>C | GRCh37 |
| NC_000024.8:g.12588246G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420610.1:n.192+141G>C |