gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.96831722 (EAS)
Genomes Max Group AF
0.96831722 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165749742C>A , CM000663.2:g.165749742C>A | GRCh38 |
| NC_000001.10:g.165718979C>A , CM000663.1:g.165718979C>A | GRCh37 |
| NC_000001.9:g.163985603C>A | NCBI36 |
| NG_032004.1:g.24181G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367881.11:c.323+2360G>T MANE Select | ENSP00000356856.6:n.323+2360G>T | |
| ENST00000465705.4:c.*154+2360G>T | ENSP00000463105.2:n.*154+2360G>T | |
| ENST00000476143.7:c.*113+2360G>T | ENSP00000464127.2:n.*113+2360G>T | |
| ENST00000367881.9:c.476+2360G>T | ENSP00000356856.5:n.476+2360G>T | |
| ENST00000392129.10:c.323+2360G>T | ENSP00000375975.5:n.323+2360G>T | |
| ENST00000464650.5:c.71+2360G>T | ENSP00000463951.1:n.71+2360G>T | |
| ENST00000465705.3:c.*154+2360G>T | ENSP00000463105.1:n.*154+2360G>T | |
| ENST00000476143.6:c.400+2360G>T | ||
| ENST00000481278.5:c.287+2360G>T | ENSP00000462300.1:n.287+2360G>T | |
| ENST00000580248.5:c.71+2360G>T | ENSP00000462588.1:n.71+2360G>T | |
| ENST00000612311.4:c.476+2360G>T | ENSP00000480514.1:n.476+2360G>T | |
| NM_001256164.1:c.374+2360G>T | NP_001243093.1:n.374+2360G>T | |
| NM_001256165.1:c.287+2360G>T | NP_001243094.1:n.287+2360G>T | |
| NM_019026.4:c.476+2360G>T | NP_061899.2:n.476+2360G>T | |
| NR_045818.1:n.417+2360G>T | ||
| NM_001366129.1:c.323+2360G>T | NP_001353058.1:n.323+2360G>T | |
| NM_019026.5:c.323+2360G>T | NP_061899.3:n.323+2360G>T | |
| NM_019026.6:c.323+2360G>T MANE Select | NP_061899.3:n.323+2360G>T |