dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.56181015 (AFR)
Genomes Max Group AF
0.56181015 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.95302644A>G , CM000674.2:g.95302644A>G | GRCh38 |
| NC_000012.11:g.95696420A>G , CM000674.1:g.95696420A>G | GRCh37 |
| NC_000012.10:g.94220551A>G | NCBI36 |
| NG_028987.1:g.89899A>G | |
| NG_028987.2:g.89899A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436874.6:c.*1971A>G MANE Select | ENSP00000410083.1:n.*1971A>G | |
| ENST00000436874.5:c.*1971A>G | ENSP00000410083.1:n.*1971A>G | |
| NM_017599.3:c.*1971A>G | NP_060069.3:n.*1971A>G | |
| NR_038241.1:n.4489A>G | ||
| NR_038242.1:n.4424A>G | ||
| XM_006719477.2:c.*1971A>G | XP_006719540.1:n.*1971A>G | |
| XM_006719478.2:c.*1971A>G | XP_006719541.1:n.*1971A>G | |
| XM_006719479.2:c.*1971A>G | XP_006719542.1:n.*1971A>G | |
| XM_006719480.2:c.*1971A>G | XP_006719543.1:n.*1971A>G | |
| XM_006719481.2:c.*1971A>G | XP_006719544.1:n.*1971A>G | |
| XM_006719482.2:c.*1971A>G | XP_006719545.1:n.*1971A>G | |
| XM_006719483.2:c.*1971A>G | XP_006719546.1:n.*1971A>G | |
| XM_006719484.2:c.*1971A>G | XP_006719547.1:n.*1971A>G | |
| XM_006719485.2:c.*1971A>G | XP_006719548.1:n.*1971A>G | |
| XM_006719486.2:c.*1971A>G | XP_006719549.1:n.*1971A>G | |
| XM_011538543.1:c.*1971A>G | XP_011536845.1:n.*1971A>G | |
| XM_011538544.1:c.*1971A>G | XP_011536846.1:n.*1971A>G | |
| XM_011538545.1:c.*1971A>G | XP_011536847.1:n.*1971A>G | |
| XM_011538546.1:c.*1971A>G | XP_011536848.1:n.*1971A>G | |
| XM_011538547.1:c.*1971A>G | XP_011536849.1:n.*1971A>G | |
| XM_011538548.1:c.*1971A>G | XP_011536850.1:n.*1971A>G | |
| XM_011538549.1:c.*2527A>G | XP_011536851.1:n.*2527A>G | |
| XM_011538552.1:c.*1971A>G | XP_011536854.1:n.*1971A>G | |
| XM_011538553.1:c.*1971A>G | XP_011536855.1:n.*1971A>G | |
| NM_001352088.1:c.*1971A>G | NP_001339017.1:n.*1971A>G | |
| NM_001352089.1:c.*1971A>G | NP_001339018.1:n.*1971A>G | |
| NM_001352090.1:c.*1971A>G | NP_001339019.1:n.*1971A>G | |
| NM_001352091.1:c.*1971A>G | NP_001339020.1:n.*1971A>G | |
| NM_001352092.1:c.*1971A>G | NP_001339021.1:n.*1971A>G | |
| NM_001352093.1:c.*1971A>G | NP_001339022.1:n.*1971A>G | |
| NM_001352094.1:c.*1971A>G | NP_001339023.1:n.*1971A>G | |
| NM_001352095.1:c.*1971A>G | NP_001339024.1:n.*1971A>G | |
| NM_001352096.1:c.*1971A>G | NP_001339025.1:n.*1971A>G | |
| NM_001352097.1:c.*1971A>G | NP_001339026.1:n.*1971A>G | |
| NM_001352098.1:c.*1971A>G | NP_001339027.1:n.*1971A>G | |
| NM_001352099.1:c.*1971A>G | NP_001339028.1:n.*1971A>G | |
| NM_001352100.1:c.*3528A>G | NP_001339029.1:n.*3528A>G | |
| NM_001352101.1:c.*1971A>G | NP_001339030.1:n.*1971A>G | |
| NM_001352102.1:c.*1971A>G | NP_001339031.1:n.*1971A>G | |
| NM_001352103.1:c.*1971A>G | NP_001339032.1:n.*1971A>G | |
| NM_001352104.1:c.*1971A>G | NP_001339033.1:n.*1971A>G | |
| NM_001352105.1:c.*1971A>G | NP_001339034.1:n.*1971A>G | |
| NM_001352106.1:c.*1971A>G | NP_001339035.1:n.*1971A>G | |
| NM_001352107.1:c.*1971A>G | NP_001339036.1:n.*1971A>G | |
| NM_001352108.1:c.*2527A>G | NP_001339037.1:n.*2527A>G | |
| NM_001352109.1:c.*3528A>G | NP_001339038.1:n.*3528A>G | |
| NM_001352110.1:c.*2527A>G | NP_001339039.1:n.*2527A>G | |
| NM_001352111.1:c.*3528A>G | NP_001339040.1:n.*3528A>G | |
| NM_001352112.1:c.*3528A>G | NP_001339041.1:n.*3528A>G | |
| NM_001352113.1:c.*3528A>G | NP_001339042.1:n.*3528A>G | |
| NM_001352114.1:c.*1971A>G | NP_001339043.1:n.*1971A>G | |
| NM_001352115.1:c.*3528A>G | NP_001339044.1:n.*3528A>G | |
| NM_001352116.1:c.*3528A>G | NP_001339045.1:n.*3528A>G | |
| NM_001352117.1:c.*3528A>G | NP_001339046.1:n.*3528A>G | |
| NM_001352118.1:c.*2527A>G | NP_001339047.1:n.*2527A>G | |
| NM_001352119.1:c.*3528A>G | NP_001339048.1:n.*3528A>G | |
| NR_147917.1:n.5140A>G | ||
| NR_147918.1:n.4652A>G | ||
| NR_147919.1:n.4424A>G | ||
| NR_147920.1:n.4497A>G | ||
| NR_147921.1:n.5495A>G | ||
| NR_147922.1:n.5526A>G | ||
| NR_147923.1:n.5942A>G | ||
| NR_147924.1:n.4485A>G | ||
| NR_147925.1:n.4158A>G | ||
| NR_147926.1:n.4412A>G | ||
| XM_006719482.3:c.*1971A>G | XP_006719545.1:n.*1971A>G | |
| XM_006719483.4:c.*1971A>G | XP_006719546.1:n.*1971A>G | |
| XM_006719484.3:c.*1971A>G | XP_006719547.1:n.*1971A>G | |
| XM_011538545.2:c.*1971A>G | XP_011536847.1:n.*1971A>G | |
| XM_011538548.3:c.*1971A>G | XP_011536850.1:n.*1971A>G | |
| XM_017019586.1:c.*1971A>G | XP_016875075.1:n.*1971A>G | |
| XM_017019591.1:c.*1971A>G | XP_016875080.1:n.*1971A>G | |
| XM_017019592.2:c.*1971A>G | XP_016875081.1:n.*1971A>G | |
| XM_017019593.1:c.*1971A>G | XP_016875082.1:n.*1971A>G | |
| XM_017019594.1:c.*1971A>G | XP_016875083.1:n.*1971A>G | |
| XM_017019599.2:c.*2527A>G | XP_016875088.1:n.*2527A>G | |
| XM_017019602.1:c.*3528A>G | XP_016875091.1:n.*3528A>G | |
| XM_024449040.1:c.*1971A>G | XP_024304808.1:n.*1971A>G | |
| XM_024449041.1:c.*1971A>G | XP_024304809.1:n.*1971A>G | |
| XM_024449042.1:c.*2527A>G | XP_024304810.1:n.*2527A>G | |
| XM_024449043.1:c.*1971A>G | XP_024304811.1:n.*1971A>G | |
| XR_001748799.2:n.4227A>G | ||
| XR_001748800.2:n.5298A>G | ||
| XR_001748801.2:n.4246A>G | ||
| NM_017599.4:c.*1971A>G MANE Select | NP_060069.3:n.*1971A>G | |
| NM_001352100.2:c.*3528A>G | NP_001339029.1:n.*3528A>G | |
| NM_001352109.2:c.*3528A>G | NP_001339038.1:n.*3528A>G | |
| NM_001352111.2:c.*3528A>G | NP_001339040.1:n.*3528A>G | |
| NM_001352112.2:c.*3528A>G | NP_001339041.1:n.*3528A>G | |
| NM_001352113.2:c.*3528A>G | NP_001339042.1:n.*3528A>G | |
| NM_001352115.2:c.*3528A>G | NP_001339044.1:n.*3528A>G | |
| NM_001352116.2:c.*3528A>G | NP_001339045.1:n.*3528A>G | |
| NM_001352117.2:c.*3528A>G | NP_001339046.1:n.*3528A>G | |
| NM_001352119.2:c.*3528A>G | NP_001339048.1:n.*3528A>G | |
| NR_147921.2:n.5434A>G | ||
| NR_147922.2:n.5465A>G | ||
| NR_147923.2:n.5881A>G | ||
| NM_001352088.2:c.*1971A>G | NP_001339017.1:n.*1971A>G | |
| NM_001352089.2:c.*1971A>G | NP_001339018.1:n.*1971A>G | |
| NM_001352090.2:c.*1971A>G | NP_001339019.1:n.*1971A>G | |
| NM_001352091.2:c.*1971A>G | NP_001339020.1:n.*1971A>G | |
| NM_001352092.2:c.*1971A>G | NP_001339021.1:n.*1971A>G | |
| NM_001352093.2:c.*1971A>G | NP_001339022.1:n.*1971A>G | |
| NM_001352094.2:c.*1971A>G | NP_001339023.1:n.*1971A>G | |
| NM_001352095.2:c.*1971A>G | NP_001339024.1:n.*1971A>G | |
| NM_001352096.2:c.*1971A>G | NP_001339025.1:n.*1971A>G | |
| NM_001352097.2:c.*1971A>G | NP_001339026.1:n.*1971A>G | |
| NM_001352098.2:c.*1971A>G | NP_001339027.1:n.*1971A>G | |
| NM_001352099.2:c.*1971A>G | NP_001339028.1:n.*1971A>G | |
| NM_001352101.2:c.*1971A>G | NP_001339030.1:n.*1971A>G | |
| NM_001352102.2:c.*1971A>G | NP_001339031.1:n.*1971A>G | |
| NM_001352103.2:c.*1971A>G | NP_001339032.1:n.*1971A>G | |
| NM_001352104.2:c.*1971A>G | NP_001339033.1:n.*1971A>G | |
| NM_001352105.2:c.*1971A>G | NP_001339034.1:n.*1971A>G | |
| NM_001352106.2:c.*1971A>G | NP_001339035.1:n.*1971A>G | |
| NM_001352107.2:c.*1971A>G | NP_001339036.1:n.*1971A>G | |
| NM_001352108.2:c.*2527A>G | NP_001339037.1:n.*2527A>G | |
| NM_001352110.2:c.*2527A>G | NP_001339039.1:n.*2527A>G | |
| NM_001352114.2:c.*1971A>G | NP_001339043.1:n.*1971A>G | |
| NM_001352118.2:c.*2527A>G | NP_001339047.1:n.*2527A>G | |
| NR_038241.2:n.4428A>G | ||
| NR_038242.2:n.4363A>G | ||
| NR_147917.2:n.5079A>G | ||
| NR_147918.2:n.4591A>G | ||
| NR_147919.2:n.4363A>G | ||
| NR_147920.2:n.4436A>G | ||
| NR_147924.2:n.4424A>G | ||
| NR_147925.2:n.4097A>G | ||
| NR_147926.2:n.4351A>G |