Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127802783T>C , CM000670.2:g.127802783T>C | GRCh38 |
| NC_000008.10:g.128815029T>C , CM000670.1:g.128815029T>C | GRCh37 |
| NC_000008.9:g.128884211T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003367.3:n.202+8049T>C |