Linked Data
dbSNP Id:
rs11236809
gnomAD v2:
11-76332210-T-G
gnomAD v3:
11-76621166-T-G
gnomAD v4:
11-76621166-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.76621166T>G , CM000673.2:g.76621166T>G | GRCh38 |
| NC_000011.9:g.76332210T>G , CM000673.1:g.76332210T>G | GRCh37 |
| NC_000011.8:g.76009858T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_247265.2:n.2147+4702A>C | ||
| XR_950334.1:n.2082+5407A>C | ||
| XR_001748311.1:n.2245+4702A>C | ||
| XR_001748312.1:n.1515+4702A>C |