Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.129810129T>C , CM000666.2:g.129810129T>C | GRCh38 |
| NC_000004.11:g.130731284T>C , CM000666.1:g.130731284T>C | GRCh37 |
| NC_000004.10:g.130950734T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_151713.1:n.429-1873T>C |