gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6132285 (EAS)
Genomes Max Group AF
0.60540883 (EAS)
Exomes Max Group AF
0.61091599 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104766758C>A , CM000676.2:g.104766758C>A | GRCh38 |
| NC_000014.8:g.105233095C>A , CM000676.1:g.105233095C>A | GRCh37 |
| NC_000014.7:g.104304140C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553819.5:c.471-32C>A | ENSP00000451427.1:n.471-32C>A | |
| XR_001750914.2:n.113+85G>T | ||
| XR_001750915.2:n.113+85G>T | ||
| XR_001750916.2:n.120+85G>T | ||
| XR_429419.4:n.993C>A |