Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1798784A>C , CM000670.2:g.1798784A>C | GRCh38 |
| NC_000008.10:g.1746950A>C , CM000670.1:g.1746950A>C | GRCh37 |
| NC_000008.9:g.1734357A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000635773.1:c.496+27187A>C | ||
| ENST00000635855.1:c.543+27187A>C | ENSP00000489726.1:n.543+27187A>C | |
| ENST00000636175.1:c.343+27187A>C | ||
| ENST00000636934.1:c.544-1890A>C | ENSP00000490218.1:n.544-1890A>C |