Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99144442T>G , CM000666.2:g.99144442T>G | GRCh38 |
| NC_000004.11:g.100065593T>G , CM000666.1:g.100065593T>G | GRCh37 |
| NC_000004.10:g.100284616T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504581.1:n.170-1662A>C | ||
| NR_037884.1:n.680-10103T>G |