Canonical Allele Identifier:
CA11039937
Gene:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.30759207 (EAS)
Genomes Max Group AF
0.30759207 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184597742A>G , CM000664.2:g.184597742A>G | GRCh38 |
| NC_000002.11:g.185462469A>G , CM000664.1:g.185462469A>G | GRCh37 |
| NC_000002.10:g.185170714A>G | NCBI36 |
| NG_046950.1:g.4377A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011512285.1:c.618+526T>C | XP_011510587.1:n.618+526T>C | |
| XR_923658.1:n.518T>C | ||
| XR_923659.1:n.518T>C | ||
| XR_923660.1:n.519T>C | ||
| NR_171621.1:n.655+526T>C |