gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76620317 (EAS)
Genomes Max Group AF
0.76620317 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.23726083G>T , CM000664.2:g.23726083G>T | GRCh38 |
| NC_000002.11:g.23948953G>T , CM000664.1:g.23948953G>T | GRCh37 |
| NC_000002.10:g.23802457G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_006712030.2:c.4377+28096C>A | XP_006712093.1:n.4377+28096C>A | |
| XM_006712030.4:c.4377+28096C>A | XP_006712093.1:n.4377+28096C>A | |
| XR_001738780.2:n.4673+28096C>A |