Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461058C= , CM000672.2:g.122461058C= | GRCh38 |
| NC_000010.10:g.124220574C= , CM000672.1:g.124220574C= | GRCh37 |
| NC_000010.9:g.124210564C= | NCBI36 |
| NG_011554.1:g.4534C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648167.1:c.154+2349C= | ENSP00000498033.1:n.154+2349C= | |
| XR_946382.1:n.301G= | ||
| XR_946383.1:n.301G= | ||
| XR_946384.1:n.301G= | ||
| XR_946385.1:n.301G= | ||
| XR_946382.2:n.329G= | ||
| XR_946383.2:n.329G= | ||
| XR_946384.2:n.305G= | ||
| XR_946385.2:n.329G= |