Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.128063548T>C , CM000670.2:g.128063548T>C | GRCh38 |
| NC_000008.10:g.129075794T>C , CM000670.1:g.129075794T>C | GRCh37 |
| NC_000008.9:g.129144976T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003367.3:n.1213-6612T>C |