dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70545178 (AFR)
Genomes Max Group AF
0.70545178 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226875970T>C , CM000663.2:g.226875970T>C | GRCh38 |
| NC_000001.10:g.227063671T>C , CM000663.1:g.227063671T>C | GRCh37 |
| NC_000001.9:g.225130294T>C | NCBI36 |
| NG_007381.1:g.10399T>C | |
| NG_007381.2:g.10787T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.-21+420T>C | ENSP00000355741.2:n.-21+420T>C | |
| ENST00000366782.6:c.-277+420T>C | ENSP00000355746.2:n.-277+420T>C | |
| ENST00000366783.8:c.-21+420T>C MANE Select | ENSP00000355747.3:n.-21+420T>C | |
| ENST00000524196.6:c.-21+420T>C | ENSP00000429036.2:n.-21+420T>C | |
| ENST00000676467.1:c.-21+420T>C | ENSP00000504294.1:n.-21+420T>C | |
| ENST00000676747.1:c.-21+420T>C | ENSP00000503244.1:n.-21+420T>C | |
| ENST00000676840.1:c.-21+420T>C | ENSP00000504318.1:n.-21+420T>C | |
| ENST00000676884.1:c.-21+420T>C | ENSP00000503200.1:n.-21+420T>C | |
| ENST00000676888.1:c.-21+420T>C | ENSP00000504483.1:n.-21+420T>C | |
| ENST00000676907.1:c.-21+420T>C | ENSP00000504410.1:n.-21+420T>C | |
| ENST00000676945.1:c.-21+420T>C | ENSP00000504433.1:n.-21+420T>C | |
| ENST00000677414.1:c.-21+420T>C | ENSP00000503116.1:n.-21+420T>C | |
| ENST00000677529.1:n.418+420T>C | ||
| ENST00000677596.1:c.-21+420T>C | ENSP00000503618.1:n.-21+420T>C | |
| ENST00000677599.1:c.-21+420T>C | ENSP00000503673.1:n.-21+420T>C | |
| ENST00000677748.1:n.418+420T>C | ||
| ENST00000677880.1:c.-154+420T>C | ENSP00000503121.1:n.-154+420T>C | |
| ENST00000678021.1:c.-21+420T>C | ENSP00000504674.1:n.-21+420T>C | |
| ENST00000678233.1:c.-21+420T>C | ENSP00000504728.1:n.-21+420T>C | |
| ENST00000678320.1:c.-21+420T>C | ENSP00000503680.1:n.-21+420T>C | |
| ENST00000678655.1:c.-21+420T>C | ENSP00000504230.1:n.-21+420T>C | |
| ENST00000678706.1:c.-21+420T>C | ENSP00000503659.1:n.-21+420T>C | |
| ENST00000678776.1:c.-21+420T>C | ENSP00000504624.1:n.-21+420T>C | |
| ENST00000678784.1:c.-21+420T>C | ENSP00000504652.1:n.-21+420T>C | |
| ENST00000678820.1:c.-21+420T>C | ENSP00000504138.1:n.-21+420T>C | |
| ENST00000678835.1:c.-21+420T>C | ENSP00000504343.1:n.-21+420T>C | |
| ENST00000679088.1:c.-1469+420T>C | ENSP00000504727.1:n.-1469+420T>C | |
| ENST00000679098.1:c.-21+420T>C | ENSP00000504303.1:n.-21+420T>C | |
| ENST00000366782.5:c.-178+420T>C | ENSP00000355746.1:n.-178+420T>C | |
| ENST00000366783.7:c.-21+420T>C | ENSP00000355747.3:n.-21+420T>C | |
| ENST00000422240.6:c.-21+420T>C | ENSP00000403737.2:n.-21+420T>C | |
| ENST00000460775.5:c.-22+420T>C | ENSP00000427912.1:n.-22+420T>C | |
| ENST00000495488.5:c.-21+420T>C | ENSP00000429682.1:n.-21+420T>C | |
| ENST00000524196.5:c.-21+420T>C | ENSP00000429036.1:n.-21+420T>C | |
| NM_000447.2:c.-21+420T>C | NP_000438.2:n.-21+420T>C | |
| NM_012486.2:c.-21+420T>C | NP_036618.2:n.-21+420T>C | |
| XM_005273199.2:c.-21+420T>C | XP_005273256.1:n.-21+420T>C | |
| XM_011544236.1:c.-77+420T>C | XP_011542538.1:n.-77+420T>C | |
| XR_949149.1:n.407+420T>C | ||
| XR_949150.1:n.407+420T>C | ||
| XM_005273199.4:c.-21+420T>C | XP_005273256.1:n.-21+420T>C | |
| XM_017001835.1:c.-21+420T>C | XP_016857324.1:n.-21+420T>C | |
| XM_017001836.1:c.-21+420T>C | XP_016857325.1:n.-21+420T>C | |
| XR_001737316.2:n.385+420T>C | ||
| XR_001737317.2:n.385+420T>C | ||
| XR_001737318.2:n.385+420T>C | ||
| XR_001737319.1:n.728+420T>C | ||
| XR_001737320.1:n.728+420T>C | ||
| XR_001737321.1:n.220+420T>C | ||
| XR_949149.2:n.385+420T>C | ||
| XR_949150.3:n.385+420T>C | ||
| NM_000447.3:c.-21+420T>C MANE Select | NP_000438.2:n.-21+420T>C | |
| NM_012486.3:c.-21+420T>C | NP_036618.2:n.-21+420T>C |