Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4646320C>T , CM000666.2:g.4646320C>T | GRCh38 |
| NC_000004.11:g.4648047C>T , CM000666.1:g.4648047C>T | GRCh37 |
| NC_000004.10:g.4698948C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_037888.1:n.516-2657C>T |