gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92710098 (AFR)
Genomes Max Group AF
0.92615126 (AFR)
Exomes Max Group AF
0.91940623 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44010315T>C , CM000663.2:g.44010315T>C | GRCh38 |
| NC_000001.10:g.44475987T>C , CM000663.1:g.44475987T>C | GRCh37 |
| NC_000001.9:g.44248574T>C | NCBI36 |
| NG_050929.1:g.26178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372310.8:c.188-219A>G MANE Select | ENSP00000361384.4:n.188-219A>G | |
| ENST00000673836.1:c.188-219A>G | ENSP00000501314.1:n.188-219A>G | |
| ENST00000357730.6:c.245-219A>G | ENSP00000350362.2:n.245-219A>G | |
| ENST00000360584.6:c.407-219A>G | ENSP00000353791.2:n.407-219A>G | |
| ENST00000372306.7:c.188-219A>G | ENSP00000361380.3:n.188-219A>G | |
| ENST00000372307.7:c.-8-219A>G | ENSP00000361381.3:n.-8-219A>G | |
| ENST00000372310.7:c.188-219A>G | ENSP00000361384.3:n.188-219A>G | |
| ENST00000475075.6:c.-14-1692A>G | ENSP00000434460.1:n.-14-1692A>G | |
| ENST00000489764.1:n.807A>G | ||
| ENST00000492434.6:n.352-219A>G | ||
| ENST00000528803.1:c.245-219A>G | ENSP00000435652.1:n.245-219A>G | |
| NM_001024845.2:c.188-219A>G | NP_001020016.1:n.188-219A>G | |
| NM_001261380.1:c.200-219A>G | NP_001248309.1:n.200-219A>G | |
| NM_006934.3:c.245-219A>G | NP_008865.2:n.245-219A>G | |
| NM_201649.3:c.407-219A>G | NP_964012.2:n.407-219A>G | |
| NR_048548.1:n.452-219A>G | ||
| NR_048549.1:n.303-1692A>G | ||
| XM_011542017.1:c.407-219A>G | XP_011540319.1:n.407-219A>G | |
| NM_001328626.1:c.-14-1692A>G | NP_001315555.1:n.-14-1692A>G | |
| NM_001328627.1:c.125-219A>G | NP_001315556.1:n.125-219A>G | |
| NM_001328628.1:c.125-1692A>G | NP_001315557.1:n.125-1692A>G | |
| NM_001328629.1:c.188-219A>G | NP_001315558.1:n.188-219A>G | |
| NM_001328630.1:c.-14-1692A>G | NP_001315559.1:n.-14-1692A>G | |
| XM_011542017.2:c.407-219A>G | XP_011540319.1:n.407-219A>G | |
| XM_017002152.2:c.107-219A>G | XP_016857641.1:n.107-219A>G | |
| XM_017002153.2:c.74-219A>G | XP_016857642.1:n.74-219A>G | |
| XM_024449295.1:c.-8-219A>G | XP_024305063.1:n.-8-219A>G | |
| NM_001024845.3:c.188-219A>G MANE Select | NP_001020016.1:n.188-219A>G | |
| NM_001261380.2:c.200-219A>G | NP_001248309.1:n.200-219A>G | |
| NM_001328626.2:c.-14-1692A>G | NP_001315555.1:n.-14-1692A>G | |
| NM_001328630.2:c.-14-1692A>G | NP_001315559.1:n.-14-1692A>G | |
| NM_006934.4:c.245-219A>G | NP_008865.2:n.245-219A>G | |
| NM_201649.4:c.407-219A>G | NP_964012.2:n.407-219A>G | |
| NR_048548.2:n.275-219A>G |