dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19943518 (MID)
Genomes Max Group AF
0.17919474 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.52290115C>T , CM000670.2:g.52290115C>T | GRCh38 |
| NC_000008.10:g.53202675C>T , CM000670.1:g.53202675C>T | GRCh37 |
| NC_000008.9:g.53365228C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699087.1:c.-584-43451G>A | ENSP00000514122.1:n.-584-43451G>A | |
| ENST00000689386.1:c.-464-60038G>A MANE Select | ENSP00000509475.1:n.-464-60038G>A | |
| ENST00000693301.1:c.-547-43451G>A | ENSP00000508476.1:n.-547-43451G>A | |
| ENST00000276480.11:c.-497-60038G>A | ENSP00000276480.7:n.-497-60038G>A | |
| ENST00000517580.5:c.-468-60038G>A | ENSP00000428521.1:n.-468-60038G>A | |
| ENST00000520279.5:n.201-43451G>A | ||
| ENST00000521549.5:n.328-60038G>A | ||
| NM_014682.2:c.-497-60038G>A | NP_055497.1:n.-497-60038G>A | |
| XM_006716487.1:c.-387-43451G>A | XP_006716550.1:n.-387-43451G>A | |
| XM_011517629.1:c.-543-43451G>A | XP_011515931.1:n.-543-43451G>A | |
| XM_011517630.1:c.-547-43451G>A | XP_011515932.1:n.-547-43451G>A | |
| XM_011517631.1:c.-584-43451G>A | XP_011515933.1:n.-584-43451G>A | |
| XM_011517634.1:c.-464-60038G>A | XP_011515936.1:n.-464-60038G>A | |
| XM_011517635.1:c.-468-60038G>A | XP_011515937.1:n.-468-60038G>A | |
| XM_011517637.1:c.-125-43451G>A | XP_011515939.1:n.-125-43451G>A | |
| XM_011517638.1:c.-46-60038G>A | XP_011515940.1:n.-46-60038G>A | |
| XM_011517639.1:c.-543-43451G>A | XP_011515941.1:n.-543-43451G>A | |
| XM_011517640.1:c.-543-43451G>A | XP_011515942.1:n.-543-43451G>A | |
| XM_011517641.1:c.-736-43451G>A | XP_011515943.1:n.-736-43451G>A | |
| XM_011517642.1:c.-543-43451G>A | XP_011515944.1:n.-543-43451G>A | |
| NM_001352826.1:c.-387-43451G>A | NP_001339755.1:n.-387-43451G>A | |
| NM_001352827.1:c.-543-43451G>A | NP_001339756.1:n.-543-43451G>A | |
| NM_001352828.1:c.-584-43451G>A | NP_001339757.1:n.-584-43451G>A | |
| NM_001352829.1:c.-464-60038G>A | NP_001339758.1:n.-464-60038G>A | |
| NM_001352830.1:c.-397-60038G>A | NP_001339759.1:n.-397-60038G>A | |
| NM_001352831.1:c.-547-43451G>A | NP_001339760.1:n.-547-43451G>A | |
| NM_001352832.1:c.-387-43451G>A | NP_001339761.1:n.-387-43451G>A | |
| NM_001352833.1:c.-308-60038G>A | NP_001339762.1:n.-308-60038G>A | |
| NM_001352834.1:c.-389-43451G>A | NP_001339763.1:n.-389-43451G>A | |
| NM_001352835.1:c.-308-60038G>A | NP_001339764.1:n.-308-60038G>A | |
| NM_001352836.1:c.-46-60038G>A | NP_001339765.1:n.-46-60038G>A | |
| NM_001352837.1:c.-464-60038G>A | NP_001339766.1:n.-464-60038G>A | |
| NM_001352838.1:c.-262-68322G>A | NP_001339767.1:n.-262-68322G>A | |
| NM_001352858.1:c.-387-43451G>A | NP_001339787.1:n.-387-43451G>A | |
| NM_001352861.1:c.-580-43451G>A | NP_001339790.1:n.-580-43451G>A | |
| NM_001352862.1:c.-239-60038G>A | NP_001339791.1:n.-239-60038G>A | |
| NM_001352863.1:c.-707-43451G>A | NP_001339792.1:n.-707-43451G>A | |
| NM_001352870.1:c.-468-60038G>A | NP_001339799.1:n.-468-60038G>A | |
| NM_001352871.1:c.-46-60038G>A | NP_001339800.1:n.-46-60038G>A | |
| NM_001352872.1:c.-308-60038G>A | NP_001339801.1:n.-308-60038G>A | |
| NM_001352876.1:c.-464-60038G>A | NP_001339805.1:n.-464-60038G>A | |
| NM_001352877.1:c.-1745-43451G>A | NP_001339806.1:n.-1745-43451G>A | |
| NM_001352881.1:c.*36-60038G>A | NP_001339810.1:n.*36-60038G>A | |
| NR_148195.1:n.324-43451G>A | ||
| XR_002956655.1:n.201-43451G>A | ||
| XR_002956656.1:n.201-43451G>A | ||
| NM_001352826.2:c.-387-43451G>A | NP_001339755.1:n.-387-43451G>A | |
| NM_001352827.2:c.-543-43451G>A | NP_001339756.1:n.-543-43451G>A | |
| NM_001352828.2:c.-584-43451G>A | NP_001339757.1:n.-584-43451G>A | |
| NM_001352829.2:c.-464-60038G>A | NP_001339758.1:n.-464-60038G>A | |
| NM_001352830.2:c.-397-60038G>A | NP_001339759.1:n.-397-60038G>A | |
| NM_001352831.2:c.-547-43451G>A | NP_001339760.1:n.-547-43451G>A | |
| NM_001352832.2:c.-387-43451G>A | NP_001339761.1:n.-387-43451G>A | |
| NM_001352833.2:c.-308-60038G>A | NP_001339762.1:n.-308-60038G>A | |
| NM_001352834.2:c.-389-43451G>A | NP_001339763.1:n.-389-43451G>A | |
| NM_001352835.2:c.-308-60038G>A | NP_001339764.1:n.-308-60038G>A | |
| NM_001352836.2:c.-46-60038G>A | NP_001339765.1:n.-46-60038G>A | |
| NM_001352837.2:c.-464-60038G>A MANE Select | NP_001339766.1:n.-464-60038G>A | |
| NM_001352838.2:c.-262-68322G>A | NP_001339767.1:n.-262-68322G>A | |
| NM_001352858.2:c.-387-43451G>A | NP_001339787.1:n.-387-43451G>A | |
| NM_001352861.2:c.-580-43451G>A | NP_001339790.1:n.-580-43451G>A | |
| NM_001352862.2:c.-239-60038G>A | NP_001339791.1:n.-239-60038G>A | |
| NM_001352863.2:c.-707-43451G>A | NP_001339792.1:n.-707-43451G>A | |
| NM_001352870.2:c.-468-60038G>A | NP_001339799.1:n.-468-60038G>A | |
| NM_001352871.2:c.-46-60038G>A | NP_001339800.1:n.-46-60038G>A | |
| NM_001352872.2:c.-308-60038G>A | NP_001339801.1:n.-308-60038G>A | |
| NM_001352876.2:c.-464-60038G>A | NP_001339805.1:n.-464-60038G>A | |
| NM_001352877.2:c.-1745-43451G>A | NP_001339806.1:n.-1745-43451G>A | |
| NM_014682.3:c.-497-60038G>A | NP_055497.1:n.-497-60038G>A | |
| NR_148195.2:n.201-43451G>A |