Canonical Allele Identifier:
CA10765582
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80543039 (EAS)
Genomes Max Group AF
0.80543039 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22146917T>C , CM000663.2:g.22146917T>C | GRCh38 |
| NC_000001.10:g.22473410T>C , CM000663.1:g.22473410T>C | GRCh37 |
| NC_000001.9:g.22345997T>C | NCBI36 |
| NG_008974.1:g.1110A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_947049.1:n.82+4013T>C | ||
| XR_947050.1:n.53+5912T>C | ||
| XR_947051.1:n.47+3926T>C | ||
| XR_947053.1:n.82+4013T>C | ||
| XR_947054.1:n.82+4013T>C | ||
| XR_947055.1:n.82+4013T>C | ||
| XR_001737923.1:n.52+3926T>C | ||
| XR_001737924.1:n.52+3926T>C | ||
| XR_001737925.1:n.52+3926T>C | ||
| XR_947051.2:n.52+3926T>C |