gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00162258 (NFE)
Genomes Max Group AF
0.00173967 (NFE)
Exomes Max Group AF
0.00154763 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69315762A>G , CM000672.2:g.69315762A>G | GRCh38 |
| NC_000010.10:g.71075518A>G , CM000672.1:g.71075518A>G | GRCh37 |
| NC_000010.9:g.70745524A>G | NCBI36 |
| NG_012077.1:g.50763A>G , LRG_365:g.50763A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703944.1:c.75+20082A>G | ENSP00000515576.1:n.75+20082A>G | |
| ENST00000436817.6:c.75+20082A>G | ENSP00000415949.2:n.75+20082A>G | |
| ENST00000450646.6:c.75+20082A>G | ENSP00000409761.2:n.75+20082A>G | |
| ENST00000464803.6:c.168+20082A>G | ENSP00000496531.1:n.168+20082A>G | |
| ENST00000476368.6:c.75+20082A>G | ENSP00000495526.1:n.75+20082A>G | |
| ENST00000643399.2:c.75+20082A>G MANE Plus Clinical | ENSP00000494664.1:n.75+20082A>G | |
| ENST00000360289.6:c.27+14901A>G | ENSP00000353433.2:n.27+14901A>G | |
| ENST00000421088.5:c.27+14901A>G | ENSP00000398316.1:n.27+14901A>G | |
| ENST00000448642.6:c.75+20082A>G | ENSP00000402103.3:n.75+20082A>G | |
| ENST00000450646.5:c.75+20082A>G | ENSP00000409761.1:n.75+20082A>G | |
| ENST00000464803.5:n.433+20082A>G | ||
| ENST00000476368.5:n.442+20082A>G | ||
| ENST00000480047.5:n.379+20082A>G | ||
| ENST00000483054.5:n.528+20082A>G | ||
| ENST00000483077.5:n.467+14901A>G | ||
| NM_033497.2:c.75+20082A>G | NP_277032.1:n.75+20082A>G | |
| NM_033498.2:c.75+20082A>G | NP_277033.1:n.75+20082A>G | |
| NM_033500.2:c.27+14901A>G , LRG_365t1:c.27+14901A>G | NP_277035.2:n.27+14901A>G | |
| XM_005269736.1:c.75+20082A>G | XP_005269793.1:n.75+20082A>G | |
| XM_011539732.1:c.27+14901A>G | XP_011538034.1:n.27+14901A>G | |
| NM_001322364.1:c.75+20082A>G | NP_001309293.1:n.75+20082A>G | |
| NM_001322365.1:c.168+20082A>G | NP_001309294.1:n.168+20082A>G | |
| NM_001358263.1:c.75+20082A>G MANE Plus Clinical | NP_001345192.1:n.75+20082A>G | |
| XM_024447969.1:c.75+20082A>G | XP_024303737.1:n.75+20082A>G | |
| NM_001322364.2:c.75+20082A>G | NP_001309293.1:n.75+20082A>G | |
| NM_001322365.2:c.168+20082A>G | NP_001309294.1:n.168+20082A>G | |
| NM_033497.3:c.75+20082A>G | NP_277032.1:n.75+20082A>G | |
| NM_033498.3:c.75+20082A>G | NP_277033.1:n.75+20082A>G |