Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127701628T>G , CM000670.2:g.127701628T>G | GRCh38 |
| NC_000008.10:g.128713873T>G , CM000670.1:g.128713873T>G | GRCh37 |
| NC_000008.9:g.128783055T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_117102.1:n.560-789A>C |