Canonical Allele Identifier:
CA12873418
Gene:
Linked Data
dbSNP Id:
rs641525
gnomAD v2:
8-2740502-T-G
gnomAD v3:
8-2882980-T-G
gnomAD v4:
8-2882980-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2882980T>G , CM000670.2:g.2882980T>G | GRCh38 |
| NC_000008.10:g.2740502T>G , CM000670.1:g.2740502T>G | GRCh37 |
| NC_000008.9:g.2727909T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_941367.1:n.212-42785T>G | ||
| NR_168441.1:n.1166+45216T>G | ||
| NR_168442.1:n.1331-33355T>G | ||
| NR_168443.1:n.1171+45216T>G | ||
| NR_168444.1:n.1166+45216T>G | ||
| NR_168445.1:n.1249+45133T>G |