gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61904387 (AFR)
Genomes Max Group AF
0.61904387 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26301229T>C , CM000684.2:g.26301229T>C | GRCh38 |
| NC_000022.10:g.26697195T>C , CM000684.1:g.26697195T>C | GRCh37 |
| NC_000022.9:g.25027195T>C | NCBI36 |
| NG_054877.1:g.136756T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248933.11:c.1348+2060T>C MANE Select | ENSP00000248933.6:n.1348+2060T>C | |
| ENST00000248933.10:c.1348+2060T>C | ENSP00000248933.6:n.1348+2060T>C | |
| ENST00000343706.8:c.1348+2060T>C | ENSP00000342661.4:n.1348+2060T>C | |
| ENST00000360929.7:c.1348+2060T>C | ENSP00000354185.3:n.1348+2060T>C | |
| ENST00000402979.1:c.667+2060T>C | ENSP00000384733.1:n.667+2060T>C | |
| ENST00000403121.5:c.667+2060T>C | ENSP00000384838.1:n.667+2060T>C | |
| ENST00000404234.7:c.1348+2060T>C | ENSP00000384772.3:n.1348+2060T>C | |
| ENST00000529632.6:c.1348+2060T>C | ENSP00000437037.3:n.1348+2060T>C | |
| ENST00000629590.2:c.1348+2060T>C | ENSP00000485720.1:n.1348+2060T>C | |
| NM_001184773.1:c.1348+2060T>C | NP_001171702.1:n.1348+2060T>C | |
| NM_001184774.1:c.1348+2060T>C | NP_001171703.1:n.1348+2060T>C | |
| NM_001184775.1:c.1348+2060T>C | NP_001171704.1:n.1348+2060T>C | |
| NM_001184776.1:c.1348+2060T>C | NP_001171705.1:n.1348+2060T>C | |
| NM_001184777.1:c.1348+2060T>C | NP_001171706.1:n.1348+2060T>C | |
| NM_021115.4:c.1348+2060T>C | NP_066938.2:n.1348+2060T>C | |
| XM_005261439.2:c.1348+2060T>C | XP_005261496.1:n.1348+2060T>C | |
| XM_005261440.2:c.1348+2060T>C | XP_005261497.1:n.1348+2060T>C | |
| XM_006724195.2:c.1348+2060T>C | XP_006724258.1:n.1348+2060T>C | |
| XM_011530037.1:c.1348+2060T>C | XP_011528339.1:n.1348+2060T>C | |
| XM_011530038.1:c.1348+2060T>C | XP_011528340.1:n.1348+2060T>C | |
| XM_011530039.1:c.1348+2060T>C | XP_011528341.1:n.1348+2060T>C | |
| XM_005261439.3:c.1348+2060T>C | XP_005261496.1:n.1348+2060T>C | |
| XM_005261440.3:c.1348+2060T>C | XP_005261497.1:n.1348+2060T>C | |
| XM_006724195.3:c.1348+2060T>C | XP_006724258.1:n.1348+2060T>C | |
| XM_011530037.2:c.1348+2060T>C | XP_011528339.1:n.1348+2060T>C | |
| XM_011530038.2:c.1348+2060T>C | XP_011528340.1:n.1348+2060T>C | |
| XM_011530039.2:c.1348+2060T>C | XP_011528341.1:n.1348+2060T>C | |
| XM_017028699.1:c.1348+2060T>C | XP_016884188.1:n.1348+2060T>C | |
| XM_017028700.1:c.1348+2060T>C | XP_016884189.1:n.1348+2060T>C | |
| NM_021115.5:c.1348+2060T>C MANE Select | NP_066938.2:n.1348+2060T>C | |
| NM_001184773.2:c.1348+2060T>C | NP_001171702.1:n.1348+2060T>C | |
| NM_001184774.2:c.1348+2060T>C | NP_001171703.1:n.1348+2060T>C | |
| NM_001184776.2:c.1348+2060T>C | NP_001171705.1:n.1348+2060T>C | |
| NM_001184777.2:c.1348+2060T>C | NP_001171706.1:n.1348+2060T>C | |
| NM_001184775.2:c.1348+2060T>C | NP_001171704.1:n.1348+2060T>C |