Canonical Allele Identifier:
CA101482562
Gene:
Linked Data
dbSNP Id:
rs7668883
gnomAD v2:
4-90519032-A-G
gnomAD v3:
4-89597881-A-G
gnomAD v4:
4-89597881-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89597881A>G , CM000666.2:g.89597881A>G | GRCh38 |
| NC_000004.11:g.90519032A>G , CM000666.1:g.90519032A>G | GRCh37 |
| NC_000004.10:g.90738055A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_938986.1:n.298+9941A>G | ||
| XR_938987.1:n.433-272A>G | ||
| XR_938988.1:n.299-272A>G | ||
| XR_938990.1:n.298+9941A>G | ||
| XR_938991.1:n.298+9941A>G | ||
| XR_938992.1:n.298+9941A>G | ||
| XR_938994.1:n.643+9941A>G | ||
| XR_938995.1:n.477+9941A>G | ||
| XR_938996.1:n.298+9941A>G | ||
| XR_938997.1:n.298+9941A>G | ||
| XR_938986.2:n.323+9941A>G | ||
| XR_938987.2:n.493-272A>G |