Canonical Allele Identifier:
CA21326467
Gene:
Linked Data
dbSNP Id:
rs989570811
gnomAD v2:
1-38624229-A-G
gnomAD v3:
1-38158557-A-G
gnomAD v4:
1-38158557-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.38158557A>G , CM000663.2:g.38158557A>G | GRCh38 |
| NC_000001.10:g.38624229A>G , CM000663.1:g.38624229A>G | GRCh37 |
| NC_000001.9:g.38396816A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947202.1:n.45-3136A>G | ||
| XR_947203.1:n.61+16843A>G | ||
| XR_947204.1:n.45-3136A>G | ||
| XR_947205.1:n.45-3136A>G | ||
| XR_001737984.1:n.45-3136A>G | ||
| XR_001737985.1:n.61+16843A>G | ||
| XR_001737986.1:n.45-3136A>G | ||
| XR_001737987.1:n.45-3136A>G | ||
| XR_002958294.1:n.45-3136A>G | ||
| XR_947205.2:n.45-3136A>G |