gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46603002 (AFR)
Genomes Max Group AF
0.46470544 (AFR)
Exomes Max Group AF
0.46290122 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.81308981A>G , CM000677.2:g.81308981A>G | GRCh38 |
| NC_000015.9:g.81601322A>G , CM000677.1:g.81601322A>G | GRCh37 |
| NC_000015.8:g.79388377A>G | NCBI36 |
| NG_029933.1:g.117104A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302987.10:c.*183A>G | ENSP00000302935.5:n.*183A>G | |
| ENST00000706926.1:c.*183A>G | ENSP00000516648.1:n.*183A>G | |
| ENST00000302987.9:c.*183A>G | ENSP00000302935.5:n.*183A>G | |
| ENST00000683961.1:c.*183A>G MANE Select | ENSP00000508085.1:n.*183A>G | |
| ENST00000360547.9:c.*3359A>G | ENSP00000456972.1:n.*3359A>G | |
| ENST00000394652.6:c.*183A>G | ENSP00000378147.2:n.*183A>G | |
| ENST00000394660.6:c.*183A>G | ENSP00000378155.2:n.*183A>G | |
| NM_001172128.1:c.*183A>G | NP_001165599.1:n.*183A>G | |
| NM_004513.5:c.*183A>G | NP_004504.3:n.*183A>G | |
| NM_172217.3:c.*183A>G | NP_757366.2:n.*183A>G | |
| XM_005254342.2:c.*183A>G | XP_005254399.1:n.*183A>G | |
| XM_005254346.3:c.*183A>G | XP_005254403.1:n.*183A>G | |
| XM_011521518.1:c.*183A>G | XP_011519820.1:n.*183A>G | |
| XM_011521520.1:c.*183A>G | XP_011519822.1:n.*183A>G | |
| NM_001352684.1:c.*183A>G | NP_001339613.1:n.*183A>G | |
| NM_001352685.1:c.*183A>G | NP_001339614.1:n.*183A>G | |
| NM_001352686.1:c.*183A>G | NP_001339615.1:n.*183A>G | |
| NM_172217.4:c.*183A>G | NP_757366.2:n.*183A>G | |
| NR_148035.1:n.4394A>G | ||
| NM_001172128.2:c.*183A>G | NP_001165599.1:n.*183A>G | |
| NM_001352684.2:c.*183A>G | NP_001339613.1:n.*183A>G | |
| NM_001352685.2:c.*183A>G | NP_001339614.1:n.*183A>G | |
| NM_004513.6:c.*183A>G | NP_004504.3:n.*183A>G | |
| NM_172217.5:c.*183A>G MANE Select | NP_757366.2:n.*183A>G | |
| NR_148035.2:n.4393A>G | ||
| NM_001352686.2:c.*183A>G | NP_001339615.1:n.*183A>G |