Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181143073T>C , CM000664.2:g.181143073T>C | GRCh38 |
| NC_000002.11:g.182007800T>C , CM000664.1:g.182007800T>C | GRCh37 |
| NC_000002.10:g.181716045T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_130784.1:n.144+19093T>C |