Canonical Allele Identifier:
CA119097006
Gene:
Linked Data
dbSNP Id:
rs12655019
gnomAD v2:
5-56195790-A-G
gnomAD v3:
5-56899963-A-G
gnomAD v4:
5-56899963-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56899963A>G , CM000667.2:g.56899963A>G | GRCh38 |
| NC_000005.9:g.56195790A>G , CM000667.1:g.56195790A>G | GRCh37 |
| NC_000005.8:g.56231547A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948346.1:n.83-1667T>C | ||
| XR_948347.1:n.76+34T>C | ||
| XR_948347.3:n.406+34T>C |