gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47112043 (AFR)
Genomes Max Group AF
0.47112043 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.198687278A>G , CM000663.2:g.198687278A>G | GRCh38 |
| NC_000001.10:g.198656407A>G , CM000663.1:g.198656407A>G | GRCh37 |
| NC_000001.9:g.196923030A>G | NCBI36 |
| NG_007730.1:g.53183A>G | |
| NG_007730.2:g.53184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697630.1:n.160-5069A>G | ||
| ENST00000697631.1:c.74-5069A>G | ENSP00000513363.1:n.74-5069A>G | |
| ENST00000697632.1:c.-482-5069A>G | ENSP00000513364.1:n.-482-5069A>G | |
| ENST00000348564.11:c.74-5069A>G | ENSP00000306782.7:n.74-5069A>G | |
| ENST00000367379.6:c.74-5069A>G | ENSP00000356349.2:n.74-5069A>G | |
| ENST00000442510.8:c.74-5069A>G MANE Select | ENSP00000411355.3:n.74-5069A>G | |
| ENST00000643513.1:c.74-5069A>G | ENSP00000494132.1:n.74-5069A>G | |
| ENST00000645247.1:c.74-5069A>G | ENSP00000494327.1:n.74-5069A>G | |
| ENST00000348564.10:c.74-5069A>G | ENSP00000306782.7:n.74-5069A>G | |
| ENST00000367364.5:c.74-5069A>G | ENSP00000356334.2:n.74-5069A>G | |
| ENST00000367367.8:c.74-5069A>G | ENSP00000356337.5:n.74-5069A>G | |
| ENST00000367379.5:c.74-5069A>G | ENSP00000356349.2:n.74-5069A>G | |
| ENST00000391970.3:n.48-5069A>G | ||
| ENST00000413409.6:c.74-5069A>G | ENSP00000405494.3:n.74-5069A>G | |
| ENST00000418674.1:c.74-5069A>G | ENSP00000393360.2:n.74-5069A>G | |
| ENST00000427110.6:n.48-5069A>G | ||
| ENST00000442510.6:c.74-5069A>G | ENSP00000411355.3:n.74-5069A>G | |
| ENST00000462363.6:n.182-5069A>G | ||
| ENST00000529828.5:c.74-5069A>G | ENSP00000469141.1:n.74-5069A>G | |
| ENST00000530727.5:c.74-5069A>G | ENSP00000433536.2:n.74-5069A>G | |
| NM_001267798.1:c.74-5069A>G | NP_001254727.1:n.74-5069A>G | |
| NM_002838.4:c.74-5069A>G | NP_002829.3:n.74-5069A>G | |
| NM_080921.3:c.74-5069A>G | NP_563578.2:n.74-5069A>G | |
| NR_052021.1:n.287-5069A>G | ||
| XM_006711472.2:c.74-5069A>G | XP_006711535.1:n.74-5069A>G | |
| XM_006711473.2:c.74-5069A>G | XP_006711536.1:n.74-5069A>G | |
| XM_006711474.2:c.74-5069A>G | XP_006711537.1:n.74-5069A>G | |
| XM_006711472.4:c.74-5069A>G | XP_006711535.1:n.74-5069A>G | |
| XM_006711473.3:c.74-5069A>G | XP_006711536.1:n.74-5069A>G | |
| XM_006711474.3:c.74-5069A>G | XP_006711537.1:n.74-5069A>G | |
| NM_002838.5:c.74-5069A>G MANE Select | NP_002829.3:n.74-5069A>G | |
| NM_001267798.2:c.74-5069A>G | NP_001254727.1:n.74-5069A>G | |
| NR_052021.2:n.215-5069A>G | ||
| NM_080921.4:c.74-5069A>G | NP_563578.2:n.74-5069A>G |