gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62430072 (EAS)
Genomes Max Group AF
0.62430072 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.126651323T>C , CM000665.2:g.126651323T>C | GRCh38 |
| NC_000003.11:g.126370166T>C , CM000665.1:g.126370166T>C | GRCh37 |
| NC_000003.10:g.127852856T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523403.3:c.243+3425A>G | ENSP00000429584.3:n.243+3425A>G | |
| ENST00000524230.9:c.243+3425A>G MANE Select | ENSP00000430031.4:n.243+3425A>G | |
| ENST00000523403.1:c.243+3425A>G | ENSP00000429584.2:n.243+3425A>G | |
| ENST00000524230.6:c.243+3425A>G | ENSP00000430031.3:n.243+3425A>G | |
| NM_001173513.1:c.243+3425A>G | NP_001166984.1:n.243+3425A>G | |
| NM_052883.1:c.243+3425A>G | NP_443115.1:n.243+3425A>G | |
| NM_052883.2:c.243+3425A>G | NP_443115.1:n.243+3425A>G | |
| NM_001173513.2:c.243+3425A>G | NP_001166984.1:n.243+3425A>G | |
| NM_001173513.3:c.243+3425A>G | NP_001166984.1:n.243+3425A>G | |
| NM_052883.3:c.243+3425A>G MANE Select | NP_443115.1:n.243+3425A>G |