gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31315875 (EAS)
Genomes Max Group AF
0.31315875 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69139102T>G , CM000673.2:g.69139102T>G | GRCh38 |
| NC_000011.9:g.68906570T>G , CM000673.1:g.68906570T>G | GRCh37 |
| NC_000011.8:g.68663146T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.1627+3570T>G | ENSP00000509200.1:n.1627+3570T>G | |
| ENST00000637084.1:c.1627+3570T>G | ENSP00000490615.1:n.1627+3570T>G | |
| XM_006718453.2:c.*36+3570T>G (TPCN2) | XP_006718516.1:n.*36+3570T>G | |
| XR_001748283.1:n.778+3570T>G (SMIM38) | ||
| XR_001748285.1:n.778+3570T>G (SMIM38) | ||
| XR_001748286.1:n.778+3570T>G (SMIM38) | ||
| XR_001748287.1:n.778+3570T>G (SMIM38) |