gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79768828 (EAS)
Genomes Max Group AF
0.79768828 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24024644A>G , CM000664.2:g.24024644A>G | GRCh38 |
| NC_000002.11:g.24247514A>G , CM000664.1:g.24247514A>G | GRCh37 |
| NC_000002.10:g.24101018A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338315.6:c.1490+373A>G MANE Select | ENSP00000342501.4:n.1490+373A>G | |
| ENST00000669179.1:c.1574+373A>G | ENSP00000499689.1:n.1574+373A>G | |
| ENST00000338315.4:c.1490+373A>G | ENSP00000342501.4:n.1490+373A>G | |
| ENST00000453731.1:c.119+373A>G | ENSP00000390490.1:n.119+373A>G | |
| ENST00000469562.1:n.1269+373A>G | ||
| XM_005264301.3:c.1490+373A>G | XP_005264358.1:n.1490+373A>G | |
| NM_001346880.1:c.1490+373A>G | NP_001333809.1:n.1490+373A>G | |
| XM_017004063.2:c.1583+373A>G | XP_016859552.1:n.1583+373A>G | |
| XM_017004064.2:c.1568+373A>G | XP_016859553.1:n.1568+373A>G | |
| XM_017004065.2:c.1499+373A>G | XP_016859554.1:n.1499+373A>G | |
| XR_001738742.1:n.2952+373A>G | ||
| NM_001346880.2:c.1490+373A>G MANE Select | NP_001333809.1:n.1490+373A>G |