gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02617851 (NFE)
Genomes Max Group AF
0.02617851 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10661265C>T , CM000681.2:g.10661265C>T | GRCh38 |
| NC_000019.9:g.10771941C>T , CM000681.1:g.10771941C>T | GRCh37 |
| NC_000019.8:g.10632941C>T | NCBI36 |
| NG_029220.1:g.12005C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407004.8:c.-91+6778C>T | ENSP00000384660.2:n.-91+6778C>T | |
| ENST00000588657.6:c.-91+6778C>T MANE Select | ENSP00000468181.1:n.-91+6778C>T | |
| ENST00000589998.6:c.-91+6778C>T | ENSP00000465219.1:n.-91+6778C>T | |
| ENST00000407004.7:c.-91+6778C>T | ENSP00000384660.2:n.-91+6778C>T | |
| ENST00000449870.5:c.-91+6778C>T | ENSP00000404121.1:n.-91+6778C>T | |
| ENST00000587928.5:n.184+6778C>T | ||
| ENST00000589283.5:c.-91+6118C>T | ENSP00000466396.1:n.-91+6118C>T | |
| ENST00000589600.5:c.-248-5227C>T | ENSP00000468134.1:n.-248-5227C>T | |
| ENST00000589998.5:c.-91+6778C>T | ENSP00000465219.1:n.-91+6778C>T | |
| ENST00000590009.5:c.-91+6142C>T | ENSP00000465654.1:n.-91+6142C>T | |
| ENST00000593199.5:c.-91+5680C>T | ENSP00000468323.1:n.-91+5680C>T | |
| NM_001137673.1:c.-91+6778C>T | NP_001131145.1:n.-91+6778C>T | |
| NM_004516.3:c.-91+6778C>T | NP_004507.2:n.-91+6778C>T | |
| NM_012218.3:c.-91+6778C>T | NP_036350.2:n.-91+6778C>T | |
| NM_017620.2:c.-91+6778C>T | NP_060090.2:n.-91+6778C>T | |
| NM_153464.2:c.-91+6778C>T | NP_703194.1:n.-91+6778C>T | |
| XM_006722742.2:c.-91+6778C>T | XP_006722805.1:n.-91+6778C>T | |
| XM_011527985.1:c.-91+6778C>T | XP_011526287.1:n.-91+6778C>T | |
| XM_011527984.2:c.-91+6142C>T | XP_011526286.2:n.-91+6142C>T | |
| XM_011527985.2:c.-91+6778C>T | XP_011526287.1:n.-91+6778C>T | |
| XM_017026763.1:c.-248-5227C>T | XP_016882252.1:n.-248-5227C>T | |
| XM_017026765.1:c.-998+6778C>T | XP_016882254.1:n.-998+6778C>T | |
| XM_024451490.1:c.-91+6142C>T | XP_024307258.1:n.-91+6142C>T | |
| XM_024451491.1:c.-794+6778C>T | XP_024307259.1:n.-794+6778C>T | |
| NM_001137673.2:c.-91+6778C>T | NP_001131145.1:n.-91+6778C>T | |
| NM_004516.4:c.-91+6778C>T | NP_004507.2:n.-91+6778C>T | |
| NM_012218.4:c.-91+6778C>T | NP_036350.2:n.-91+6778C>T | |
| NM_153464.3:c.-91+6778C>T | NP_703194.1:n.-91+6778C>T | |
| NM_017620.3:c.-91+6778C>T MANE Select | NP_060090.2:n.-91+6778C>T | |
| NM_001394808.1:c.-248-5227C>T | NP_001381737.1:n.-248-5227C>T | |
| NM_001394809.1:c.-91+6142C>T | NP_001381738.1:n.-91+6142C>T | |
| NM_001394810.1:c.-91+6118C>T | NP_001381739.1:n.-91+6118C>T | |
| NM_001394811.1:c.-248-5227C>T | NP_001381740.1:n.-248-5227C>T | |
| NM_001394812.1:c.-91+6142C>T | NP_001381741.1:n.-91+6142C>T | |
| NM_001394813.1:c.-91+6778C>T | NP_001381742.1:n.-91+6778C>T | |
| NM_001394814.1:c.-91+6778C>T | NP_001381743.1:n.-91+6778C>T | |
| NM_001394815.1:c.-91+6778C>T | NP_001381744.1:n.-91+6778C>T | |
| NM_001394816.1:c.-91+6142C>T | NP_001381745.1:n.-91+6142C>T | |
| NM_001394817.1:c.-91+6778C>T | NP_001381746.1:n.-91+6778C>T | |
| NM_001394818.1:c.-91+6778C>T | NP_001381747.1:n.-91+6778C>T | |
| NM_001394819.1:c.-91+6778C>T | NP_001381748.1:n.-91+6778C>T | |
| NM_001394820.1:c.-91+6142C>T | NP_001381749.1:n.-91+6142C>T | |
| NM_001394821.1:c.-248-5227C>T | NP_001381750.1:n.-248-5227C>T | |
| NM_001394822.1:c.-91+6118C>T | NP_001381751.1:n.-91+6118C>T | |
| NM_001394823.1:c.-91+6142C>T | NP_001381752.1:n.-91+6142C>T | |
| NM_001394824.1:c.-248-5227C>T | NP_001381753.1:n.-248-5227C>T | |
| NM_001394826.1:c.-91+6142C>T | NP_001381755.1:n.-91+6142C>T | |
| NM_001394827.1:c.-91+6778C>T | NP_001381756.1:n.-91+6778C>T |