Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27098564C>T , CM000669.2:g.27098564C>T | GRCh38 |
| NC_000007.13:g.27138183C>T , CM000669.1:g.27138183C>T | GRCh37 |
| NC_000007.12:g.27104708C>T | NCBI36 |
| NG_011813.1:g.2443G>A | |
| NG_012078.1:g.9212G>A | |
| NG_033087.1:g.7471C>T | |
| NG_012078.2:g.9212G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038366.1:n.296-534C>T | |
| NR_038367.1:n.296-1215C>T |