Canonical Allele Identifier:
CA66271829
Gene:
Linked Data
dbSNP Id:
rs10209697
gnomAD v2:
2-222549197-G-A
gnomAD v3:
2-221684477-G-A
gnomAD v4:
2-221684477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.221684477G>A , CM000664.2:g.221684477G>A | GRCh38 |
| NC_000002.11:g.222549197G>A , CM000664.1:g.222549197G>A | GRCh37 |
| NC_000002.10:g.222257441G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_923941.1:n.320+897G>A | ||
| XR_923942.1:n.320+897G>A | ||
| XR_923943.1:n.357+897G>A | ||
| XR_001739234.1:n.357+897G>A | ||
| XR_001739235.1:n.320+897G>A |