Canonical Allele Identifier:
CA12712940
Gene:
Linked Data
dbSNP Id:
rs10099338
gnomAD v2:
8-9257739-A-G
gnomAD v3:
8-9400229-A-G
gnomAD v4:
8-9400229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.9400229A>G , CM000670.2:g.9400229A>G | GRCh38 |
| NC_000008.10:g.9257739A>G , CM000670.1:g.9257739A>G | GRCh37 |
| NC_000008.9:g.9295149A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_948936.1:n.185+3716T>C | ||
| XR_948940.1:n.96-3634A>G | ||
| XR_948941.1:n.96-13420A>G | ||
| XR_002956685.1:n.99-3634A>G | ||
| XR_948940.2:n.99-3634A>G | ||
| XR_948941.2:n.99-13420A>G |