gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.83527083 (EAS)
Genomes Max Group AF
0.83527083 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66159908T>C , CM000677.2:g.66159908T>C | GRCh38 |
| NC_000015.9:g.66452246T>C , CM000677.1:g.66452246T>C | GRCh37 |
| NC_000015.8:g.64239300T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395614.6:c.-8-31497A>G MANE Select | ENSP00000378976.2:n.-8-31497A>G | |
| ENST00000422354.6:c.-8-31497A>G | ENSP00000414475.1:n.-8-31497A>G | |
| ENST00000288745.7:c.-26-35908A>G | ENSP00000288745.3:n.-26-35908A>G | |
| ENST00000409699.6:c.-30-31475A>G | ENSP00000386908.2:n.-30-31475A>G | |
| ENST00000422354.5:c.-8-31497A>G | ENSP00000414475.1:n.-8-31497A>G | |
| NM_032445.2:c.-8-31497A>G | NP_115821.2:n.-8-31497A>G | |
| XM_011522109.1:c.31+5418A>G | XP_011520411.1:n.31+5418A>G | |
| NM_001385028.1:c.-8-31497A>G MANE Select | NP_001371957.1:n.-8-31497A>G | |
| NM_001385029.1:c.-8-31497A>G | NP_001371958.1:n.-8-31497A>G | |
| NM_001385030.1:c.-26-35908A>G | NP_001371959.1:n.-26-35908A>G | |
| NM_001385031.1:c.-142-35908A>G | NP_001371960.1:n.-142-35908A>G | |
| NM_001385032.1:c.-142-35908A>G | NP_001371961.1:n.-142-35908A>G | |
| NM_001385033.1:c.-8-31497A>G | NP_001371962.1:n.-8-31497A>G | |
| NM_001387150.1:c.-30-31475A>G | NP_001374079.1:n.-30-31475A>G | |
| NM_001387151.1:c.-8-31497A>G | NP_001374080.1:n.-8-31497A>G | |
| NM_032445.3:c.-8-31497A>G | NP_115821.2:n.-8-31497A>G | |
| NR_169554.1:n.147-35908A>G | ||
| NR_169555.1:n.147-35908A>G | ||
| NR_169556.1:n.147-31497A>G | ||
| NR_169557.1:n.147-31497A>G | ||
| NR_169558.1:n.147-31497A>G |