gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.08222536 (EAS)
Genomes Max Group AF
0.08222536 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87601119T>C , CM000669.2:g.87601119T>C | GRCh38 |
| NC_000007.13:g.87230435T>C , CM000669.1:g.87230435T>C | GRCh37 |
| NC_000007.12:g.87068371T>C | NCBI36 |
| NG_011513.1:g.117130A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.-330-41A>G | ENSP00000265724.3:n.-330-41A>G | |
| ENST00000265724.7:c.-330-41A>G | ENSP00000265724.3:n.-330-41A>G | |
| ENST00000416177.1:c.-183-41A>G | ENSP00000399419.1:n.-183-41A>G | |
| ENST00000476862.1:n.317-41A>G | ||
| ENST00000543898.5:c.-330-41A>G | ENSP00000444095.1:n.-330-41A>G | |
| NM_000927.4:c.-330-41A>G | NP_000918.2:n.-330-41A>G | |
| NM_001348944.1:c.-183-41A>G | NP_001335873.1:n.-183-41A>G | |
| NM_001348945.1:c.28-41A>G | NP_001335874.1:n.28-41A>G | |
| NM_000927.5:c.-330-41A>G | NP_000918.2:n.-330-41A>G | |
| NM_001348944.2:c.-183-41A>G | NP_001335873.1:n.-183-41A>G | |
| NM_001348945.2:c.28-41A>G | NP_001335874.1:n.28-41A>G |