dbSNP:
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.172628350A>G , CM000664.2:g.172628350A>G | GRCh38 |
| NC_000002.11:g.173493078A>G , CM000664.1:g.173493078A>G | GRCh37 |
| NC_000002.10:g.173201324A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_922942.1:n.2199A>G | ||
| XR_922943.1:n.2008A>G | ||
| XR_922944.1:n.1486+32327A>G | ||
| XR_001738771.1:n.2374A>G | ||
| XR_001738772.2:n.1486+32327A>G | ||
| XR_001738774.2:n.1438+32327A>G | ||
| XR_922944.2:n.1486+32327A>G |