gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1059562 (NFE)
Genomes Max Group AF
0.1059562 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33013140T>C , CM000671.2:g.33013140T>C | GRCh38 |
| NC_000009.11:g.33013138T>C , CM000671.1:g.33013138T>C | GRCh37 |
| NC_000009.10:g.33003138T>C | NCBI36 |
| NG_012821.2:g.16992A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436040.7:c.-5+11883A>G | ENSP00000400806.4:n.-5+11883A>G | |
| ENST00000460940.6:c.-5+11860A>G | ENSP00000418311.1:n.-5+11860A>G | |
| ENST00000467331.6:c.-5+11664A>G | ENSP00000418733.1:n.-5+11664A>G | |
| ENST00000468275.6:c.-5+11664A>G | ENSP00000420263.2:n.-5+11664A>G | |
| ENST00000482687.6:c.-5+11664A>G | ENSP00000419289.2:n.-5+11664A>G | |
| ENST00000485479.6:c.-5+11860A>G | ENSP00000418144.1:n.-5+11860A>G | |
| ENST00000495360.6:c.-5+11860A>G | ENSP00000419623.2:n.-5+11860A>G | |
| ENST00000672281.1:n.193+4536A>G | ||
| ENST00000673248.1:c.-127+11664A>G | ENSP00000500601.1:n.-127+11664A>G | |
| ENST00000673360.1:c.-5+11664A>G | ENSP00000500360.1:n.-5+11664A>G | |
| ENST00000673487.1:c.-5+11664A>G | ENSP00000500943.1:n.-5+11664A>G | |
| ENST00000460945.5:n.169+11860A>G | ||
| ENST00000495360.5:c.-5+11664A>G | ENSP00000419623.1:n.-5+11664A>G | |
| XM_011517936.1:c.-264+11883A>G | XP_011516238.1:n.-264+11883A>G | |
| XM_011517937.1:c.-222+11860A>G | XP_011516239.1:n.-222+11860A>G | |
| XM_017014837.2:c.-5+11664A>G | XP_016870326.1:n.-5+11664A>G | |
| XM_024447575.1:c.-5+11664A>G | XP_024303343.1:n.-5+11664A>G | |
| XM_024447576.1:c.-5+11860A>G | XP_024303344.1:n.-5+11860A>G | |
| XM_024447577.1:c.-5+11883A>G | XP_024303345.1:n.-5+11883A>G | |
| XM_024447579.1:c.-5+11664A>G | XP_024303347.1:n.-5+11664A>G | |
| XM_024447580.1:c.-5+11883A>G | XP_024303348.1:n.-5+11883A>G | |
| XM_024447581.1:c.-264+11664A>G | XP_024303349.1:n.-264+11664A>G | |
| XM_024447582.1:c.-264+11860A>G | XP_024303350.1:n.-264+11860A>G | |
| NM_001368995.1:c.-5+11860A>G | NP_001355924.1:n.-5+11860A>G | |
| NM_001368996.1:c.-5+11883A>G | NP_001355925.1:n.-5+11883A>G | |
| NM_001368997.1:c.-5+11664A>G | NP_001355926.1:n.-5+11664A>G | |
| NM_001368999.1:c.-5+11664A>G | NP_001355928.1:n.-5+11664A>G | |
| NM_001369000.1:c.-5+11664A>G | NP_001355929.1:n.-5+11664A>G | |
| NM_001369001.1:c.-5+11883A>G | NP_001355930.1:n.-5+11883A>G | |
| NM_001369002.1:c.-264+11860A>G | NP_001355931.1:n.-264+11860A>G | |
| NM_001369003.1:c.-264+11664A>G | NP_001355932.1:n.-264+11664A>G | |
| NR_160922.1:n.317+11664A>G | ||
| NR_160923.1:n.121+11860A>G | ||
| NR_160924.1:n.121+11860A>G | ||
| NR_160925.1:n.317+11664A>G | ||
| NR_160926.1:n.121+11860A>G | ||
| NR_160927.1:n.317+11664A>G | ||
| NR_160928.1:n.317+11664A>G | ||
| NR_160929.1:n.121+11860A>G |