gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01045587 (EAS)
Genomes Max Group AF
0.01342485 (EAS)
Exomes Max Group AF
0.00978045 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786317T>C , CM000665.2:g.165786317T>C | GRCh38 |
| NC_000003.11:g.165504105T>C , CM000665.1:g.165504105T>C | GRCh37 |
| NC_000003.10:g.166986799T>C | NCBI36 |
| NG_009031.1:g.56149A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1518-6A>G MANE Select | ENSP00000264381.3:n.1518-6A>G | |
| ENST00000264381.7:c.1518-6A>G | ENSP00000264381.3:n.1518-6A>G | |
| ENST00000479451.5:c.108-6A>G | ENSP00000418325.1:n.108-6A>G | |
| ENST00000482958.1:c.*24-6A>G | ENSP00000419804.1:n.*24-6A>G | |
| ENST00000488954.1:c.108-6A>G | ENSP00000418504.1:n.108-6A>G | |
| ENST00000497011.5:c.1518-6A>G | ENSP00000419505.1:n.1518-6A>G | |
| NM_000055.2:c.1518-6A>G | NP_000046.1:n.1518-6A>G | |
| XM_005247685.1:c.1641-6A>G | XP_005247742.1:n.1641-6A>G | |
| NM_000055.3:c.1518-6A>G | NP_000046.1:n.1518-6A>G | |
| NR_137635.1:n.160-6A>G | ||
| NR_137636.1:n.1685-6A>G | ||
| NM_000055.4:c.1518-6A>G MANE Select | NP_000046.1:n.1518-6A>G | |
| NR_137635.2:n.111-6A>G | ||
| NR_137636.2:n.1636-6A>G |