Canonical Allele Identifier:
CA2673912751
Gene:
Linked Data
gnomAD v4:
5-56899978-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56899978G>T , CM000667.2:g.56899978G>T | GRCh38 |
| NC_000005.9:g.56195805G>T , CM000667.1:g.56195805G>T | GRCh37 |
| NC_000005.8:g.56231562G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948346.1:n.83-1682C>A | ||
| XR_948347.1:n.76+19C>A | ||
| XR_948347.3:n.406+19C>A |