Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92575021A>C , CM000672.2:g.92575021A>C | GRCh38 |
| NC_000010.10:g.94334778A>C , CM000672.1:g.94334778A>C | GRCh37 |
| NC_000010.9:g.94324758A>C | NCBI36 |
| NG_013012.1:g.4075T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000676757.1:c.-131+828A>C | ENSP00000504289.1:n.-131+828A>C |