dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40923025 (EAS)
Genomes Max Group AF
0.40923025 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.40761921A>G , CM000664.2:g.40761921A>G | GRCh38 |
| NC_000002.11:g.40989061A>G , CM000664.1:g.40989061A>G | GRCh37 |
| NC_000002.10:g.40842565A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_939988.1:n.246+6702A>G | ||
| XR_939989.1:n.247-5295A>G | ||
| XR_939990.1:n.247-2336A>G | ||
| XR_939994.1:n.217-64994T>C | ||
| XR_939995.1:n.217-64994T>C | ||
| XR_001739421.2:n.217-64994T>C | ||
| XR_001739422.1:n.1666-64994T>C | ||
| XR_001739423.1:n.217-23769T>C | ||
| XR_002959380.1:n.692-2336A>G | ||
| XR_939989.3:n.226-5295A>G | ||
| XR_939994.2:n.217-64994T>C | ||
| XR_939995.2:n.217-64994T>C |