gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78636513 (AFR)
Genomes Max Group AF
0.78636513 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41483195G>A , CM000666.2:g.41483195G>A | GRCh38 |
| NC_000004.11:g.41485212G>A , CM000666.1:g.41485212G>A | GRCh37 |
| NC_000004.10:g.41179969G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313860.12:c.97-11341G>A | ENSP00000316891.7:n.97-11341G>A | |
| ENST00000313860.11:c.97-11341G>A | ENSP00000316891.7:n.97-11341G>A | |
| ENST00000446625.6:c.-381-11341G>A | ENSP00000411020.2:n.-381-11341G>A | |
| ENST00000508501.5:c.97-11341G>A | ENSP00000424825.1:n.97-11341G>A | |
| ENST00000509638.5:c.-310-41214G>A | ENSP00000427311.1:n.-310-41214G>A | |
| ENST00000511424.5:c.-381-11341G>A | ENSP00000426353.1:n.-381-11341G>A | |
| ENST00000512228.5:n.131-11341G>A | ||
| ENST00000512632.5:c.97-11341G>A | ENSP00000427045.1:n.97-11341G>A | |
| ENST00000512820.5:c.97-11341G>A | ENSP00000424437.1:n.97-11341G>A | |
| ENST00000512946.5:c.97-11341G>A | ENSP00000424645.1:n.97-11341G>A | |
| ENST00000513024.5:c.-381-11341G>A | ENSP00000425222.1:n.-381-11341G>A | |
| ENST00000514190.5:n.129-11341G>A | ||
| ENST00000515847.1:n.179-11341G>A | ||
| NM_001112717.2:c.97-11341G>A | NP_001106188.1:n.97-11341G>A | |
| NM_001112718.2:c.97-11341G>A | NP_001106189.1:n.97-11341G>A | |
| NM_001289122.1:c.97-11341G>A | NP_001276051.1:n.97-11341G>A | |
| NM_001289124.1:c.-381-11341G>A | NP_001276053.1:n.-381-11341G>A | |
| NM_014988.3:c.97-11341G>A | NP_055803.2:n.97-11341G>A | |
| XM_005248057.1:c.97-11341G>A | XP_005248114.1:n.97-11341G>A | |
| XM_005248058.1:c.97-11341G>A | XP_005248115.1:n.97-11341G>A | |
| XM_005248060.1:c.97-11341G>A | XP_005248117.1:n.97-11341G>A | |
| XM_005248061.1:c.97-11341G>A | XP_005248118.1:n.97-11341G>A | |
| XM_005248072.1:c.97-11341G>A | XP_005248129.1:n.97-11341G>A | |
| XM_005248074.1:c.97-11341G>A | XP_005248131.1:n.97-11341G>A | |
| XM_005248075.1:c.97-11341G>A | XP_005248132.1:n.97-11341G>A | |
| XM_006713996.1:c.97-11341G>A | XP_006714059.1:n.97-11341G>A | |
| XM_011513642.1:c.97-11341G>A | XP_011511944.1:n.97-11341G>A | |
| XM_011513643.1:c.97-11341G>A | XP_011511945.1:n.97-11341G>A | |
| XM_011513644.1:c.97-11341G>A | XP_011511946.1:n.97-11341G>A | |
| XM_011513645.1:c.97-11341G>A | XP_011511947.1:n.97-11341G>A | |
| XM_011513646.1:c.97-11341G>A | XP_011511948.1:n.97-11341G>A | |
| XM_011513648.1:c.97-11341G>A | XP_011511950.1:n.97-11341G>A | |
| XM_011513650.1:c.-382+10000G>A | XP_011511952.1:n.-382+10000G>A | |
| XM_011513652.1:c.97-11341G>A | XP_011511954.1:n.97-11341G>A | |
| XM_011513653.1:c.97-11341G>A | XP_011511955.1:n.97-11341G>A | |
| XM_011513654.1:c.97-11341G>A | XP_011511956.1:n.97-11341G>A | |
| XM_011513658.1:c.-381-11341G>A | XP_011511960.1:n.-381-11341G>A | |
| NM_001112717.3:c.97-11341G>A | NP_001106188.1:n.97-11341G>A | |
| NM_001112718.3:c.97-11341G>A | NP_001106189.1:n.97-11341G>A | |
| NM_001289122.2:c.97-11341G>A | NP_001276051.1:n.97-11341G>A | |
| NM_001330784.1:c.97-11341G>A | NP_001317713.1:n.97-11341G>A | |
| NM_001330787.1:c.97-11341G>A | NP_001317716.1:n.97-11341G>A | |
| NM_001330788.1:c.97-11341G>A | NP_001317717.1:n.97-11341G>A | |
| NM_001330789.1:c.97-11341G>A | NP_001317718.1:n.97-11341G>A | |
| NM_001330790.1:c.97-11341G>A | NP_001317719.1:n.97-11341G>A | |
| NM_001330791.1:c.97-11341G>A | NP_001317720.1:n.97-11341G>A | |
| NM_001330792.1:c.97-11341G>A | NP_001317721.1:n.97-11341G>A | |
| NM_014988.4:c.97-11341G>A | NP_055803.2:n.97-11341G>A | |
| XM_017007894.1:c.97-11341G>A | XP_016863383.1:n.97-11341G>A | |
| XM_017007895.1:c.97-11341G>A | XP_016863384.1:n.97-11341G>A | |
| XM_017007896.1:c.97-11341G>A | XP_016863385.1:n.97-11341G>A | |
| XM_017007897.1:c.97-11341G>A | XP_016863386.1:n.97-11341G>A | |
| XM_017007898.1:c.97-11341G>A | XP_016863387.1:n.97-11341G>A | |
| XM_017007900.1:c.97-11341G>A | XP_016863389.1:n.97-11341G>A | |
| XM_024453937.1:c.97-11341G>A | XP_024309705.1:n.97-11341G>A | |
| NM_001112717.4:c.97-11341G>A | NP_001106188.1:n.97-11341G>A | |
| NM_001112718.4:c.97-11341G>A | NP_001106189.1:n.97-11341G>A | |
| NM_001289122.3:c.97-11341G>A | NP_001276051.1:n.97-11341G>A | |
| NM_001289124.2:c.-381-11341G>A | NP_001276053.1:n.-381-11341G>A | |
| NM_001330784.2:c.97-11341G>A | NP_001317713.1:n.97-11341G>A | |
| NM_001330787.2:c.97-11341G>A | NP_001317716.1:n.97-11341G>A | |
| NM_001330788.2:c.97-11341G>A | NP_001317717.1:n.97-11341G>A | |
| NM_001330789.2:c.97-11341G>A | NP_001317718.1:n.97-11341G>A | |
| NM_001330790.2:c.97-11341G>A | NP_001317719.1:n.97-11341G>A | |
| NM_001330791.2:c.97-11341G>A | NP_001317720.1:n.97-11341G>A | |
| NM_001330792.2:c.97-11341G>A | NP_001317721.1:n.97-11341G>A | |
| NM_014988.5:c.97-11341G>A | NP_055803.2:n.97-11341G>A |