Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28162288C= , CM000668.2:g.28162288C= | GRCh38 |
| NC_000006.11:g.28130066C= , CM000668.1:g.28130066C= | GRCh37 |
| NC_000006.10:g.28238045C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562227.2:n.54-321C= | ||
| ENST00000440790.6:n.42-292C= | ||
| ENST00000570126.1:n.31-292C= | ||
| NR_103448.1:n.62-292C= |