gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14806383 (SAS)
Genomes Max Group AF
0.14806383 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.59272212A>C , CM000664.2:g.59272212A>C | GRCh38 |
| NC_000002.11:g.59499347A>C , CM000664.1:g.59499347A>C | GRCh37 |
| NC_000002.10:g.59352851A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110219.1:n.168-5320A>C | ||
| XR_940126.1:n.459-22519T>G | ||
| XR_940127.1:n.459-22519T>G | ||
| XR_940128.1:n.459-22519T>G | ||
| XR_940129.1:n.459-22519T>G | ||
| XR_940130.1:n.289-22519T>G | ||
| XR_940131.1:n.459-22519T>G | ||
| XR_002959389.1:n.1448-22519T>G | ||
| XR_940126.2:n.1618-22519T>G | ||
| XR_940127.2:n.1618-22519T>G | ||
| XR_940128.2:n.1618-22519T>G | ||
| XR_940129.2:n.1618-22519T>G | ||
| XR_940130.2:n.1448-22519T>G | ||
| XR_940131.2:n.1618-22519T>G |