gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04440481 (SAS)
Genomes Max Group AF
0.0208025 (NFE)
Exomes Max Group AF
0.04698057 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25275414A>C , CM000664.2:g.25275414A>C | GRCh38 |
| NC_000002.11:g.25498283A>C , CM000664.1:g.25498283A>C | GRCh37 |
| NC_000002.10:g.25351787A>C | NCBI36 |
| NG_029465.2:g.72177T>G , LRG_459:g.72177T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682842.1:n.21+86T>G | ||
| ENST00000321117.10:c.492+86T>G MANE Select | ENSP00000324375.5:n.492+86T>G | |
| ENST00000264709.7:c.492+86T>G | ENSP00000264709.3:n.492+86T>G | |
| ENST00000321117.9:c.492+86T>G | ENSP00000324375.5:n.492+86T>G | |
| ENST00000380756.7:c.492+86T>G | ENSP00000370132.3:n.492+86T>G | |
| NM_022552.4:c.492+86T>G , LRG_459t1:c.492+86T>G | NP_072046.2:n.492+86T>G | |
| NM_175629.2:c.492+86T>G , LRG_459t4:c.492+86T>G | NP_783328.1:n.492+86T>G | |
| XM_005264175.3:c.492+86T>G | XP_005264232.1:n.492+86T>G | |
| XM_006711957.2:c.492+86T>G | XP_006712020.1:n.492+86T>G | |
| XM_006711958.2:c.48+86T>G | XP_006712021.1:n.48+86T>G | |
| XM_011532662.1:c.345+86T>G | XP_011530964.1:n.345+86T>G | |
| XM_011532663.1:c.327+86T>G | XP_011530965.1:n.327+86T>G | |
| XM_011532664.1:c.492+86T>G | XP_011530966.1:n.492+86T>G | |
| XM_011532668.1:c.492+86T>G | XP_011530970.1:n.492+86T>G | |
| NR_135490.1:n.830+86T>G | ||
| XM_005264175.5:c.492+86T>G | XP_005264232.1:n.492+86T>G | |
| XM_011532662.2:c.345+86T>G | XP_011530964.1:n.345+86T>G | |
| XM_011532663.2:c.327+86T>G | XP_011530965.1:n.327+86T>G | |
| XM_011532664.2:c.492+86T>G | XP_011530966.1:n.492+86T>G | |
| XM_017003526.1:c.492+86T>G | XP_016859015.1:n.492+86T>G | |
| XR_001738657.1:n.769+86T>G | ||
| NR_135490.2:n.723+86T>G | ||
| NM_022552.5:c.492+86T>G MANE Select | NP_072046.2:n.492+86T>G |