Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.105463160T>C , CM000675.2:g.105463160T>C | GRCh38 |
| NC_000013.10:g.106115509T>C , CM000675.1:g.106115509T>C | GRCh37 |
| NC_000013.9:g.104913510T>C | NCBI36 |
| NG_012694.1:g.2294T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_040247.1:n.740-653A>G |