Canonical Allele Identifier:
CA2673912822
Gene:
Linked Data
gnomAD v4:
5-56900038-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56900038A>G , CM000667.2:g.56900038A>G | GRCh38 |
| NC_000005.9:g.56195865A>G , CM000667.1:g.56195865A>G | GRCh37 |
| NC_000005.8:g.56231622A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_948346.1:n.83-1742T>C | ||
| XR_948347.1:n.35T>C | ||
| XR_948347.3:n.365T>C |