Canonical Allele Identifier:
CA101482588
Gene:
Linked Data
dbSNP Id:
rs17015888
gnomAD v2:
4-90519274-G-A
gnomAD v3:
4-89598123-G-A
gnomAD v4:
4-89598123-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89598123G>A , CM000666.2:g.89598123G>A | GRCh38 |
| NC_000004.11:g.90519274G>A , CM000666.1:g.90519274G>A | GRCh37 |
| NC_000004.10:g.90738297G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_938986.1:n.298+10183G>A | ||
| XR_938987.1:n.433-30G>A | ||
| XR_938988.1:n.299-30G>A | ||
| XR_938990.1:n.298+10183G>A | ||
| XR_938991.1:n.298+10183G>A | ||
| XR_938992.1:n.298+10183G>A | ||
| XR_938994.1:n.643+10183G>A | ||
| XR_938995.1:n.477+10183G>A | ||
| XR_938996.1:n.298+10183G>A | ||
| XR_938997.1:n.298+10183G>A | ||
| XR_938986.2:n.323+10183G>A | ||
| XR_938987.2:n.493-30G>A |