Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133540621T>A , CM000672.2:g.133540621T>A | GRCh38 |
| NC_000010.10:g.135354125T>A , CM000672.1:g.135354125T>A | GRCh37 |
| NC_000010.9:g.135204115T>A | NCBI36 |
| NG_008383.1:g.18259T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000368520.1:n.1358+2729T>A |