Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.31420323C= , CM000681.2:g.31420323C= | GRCh38 |
| NC_000019.9:g.31911229C= , CM000681.1:g.31911229C= | GRCh37 |
| NC_000019.8:g.36603069C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001753896.1:n.2984C= | ||
| XR_001753897.1:n.2980C= | ||
| XR_001753898.1:n.2980C= | ||
| XR_001753899.1:n.2704C= | ||
| XR_001753900.1:n.2476C= | ||
| XR_002958388.1:n.3106C= |