Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127707660T>C , CM000670.2:g.127707660T>C | GRCh38 |
| NC_000008.10:g.128719905T>C , CM000670.1:g.128719905T>C | GRCh37 |
| NC_000008.9:g.128789087T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_117102.1:n.366-4417A>G |