Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.31420337C= , CM000681.2:g.31420337C= | GRCh38 |
| NC_000019.9:g.31911243C= , CM000681.1:g.31911243C= | GRCh37 |
| NC_000019.8:g.36603083C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753896.1:n.2998C= | ||
| XR_001753897.1:n.2994C= | ||
| XR_001753898.1:n.2994C= | ||
| XR_001753899.1:n.2718C= | ||
| XR_001753900.1:n.2490C= | ||
| XR_002958388.1:n.3120C= |