gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4085527 (EAS)
Genomes Max Group AF
0.4085527 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190534846G>T , CM000665.2:g.190534846G>T | GRCh38 |
| NC_000003.11:g.190252635G>T , CM000665.1:g.190252635G>T | GRCh37 |
| NC_000003.10:g.191735329G>T | NCBI36 |
| NG_029105.1:g.25796G>T | |
| NG_029105.2:g.25796G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317757.8:c.-89+20627G>T | ENSP00000314807.3:n.-89+20627G>T | |
| ENST00000439062.6:c.-252-15496G>T | ENSP00000401132.1:n.-252-15496G>T | |
| ENST00000447382.6:c.-89+20627G>T MANE Select | ENSP00000390541.1:n.-89+20627G>T | |
| ENST00000072516.7:c.-2+20627G>T | ENSP00000072516.3:n.-2+20627G>T | |
| ENST00000317757.7:c.-89+20627G>T | ENSP00000314807.3:n.-89+20627G>T | |
| ENST00000342550.6:c.-2+20627G>T | ENSP00000345829.2:n.-2+20627G>T | |
| ENST00000413869.5:c.-89+20627G>T | ENSP00000416296.1:n.-89+20627G>T | |
| ENST00000422485.5:c.-89+20627G>T | ENSP00000409352.1:n.-89+20627G>T | |
| ENST00000422625.5:c.-62-19787G>T | ENSP00000389149.1:n.-62-19787G>T | |
| ENST00000422940.5:c.-2+20627G>T | ENSP00000387371.1:n.-2+20627G>T | |
| ENST00000434491.5:c.-74+20627G>T | ENSP00000391899.1:n.-74+20627G>T | |
| ENST00000439062.5:c.-252-15496G>T | ENSP00000401132.1:n.-252-15496G>T | |
| ENST00000447382.5:c.-89+20627G>T | ENSP00000390541.1:n.-89+20627G>T | |
| ENST00000461629.1:n.112+20627G>T | ||
| ENST00000473566.1:n.101+20627G>T | ||
| NM_001167928.1:c.-252-15496G>T | NP_001161400.1:n.-252-15496G>T | |
| NM_001167929.1:c.-2+20627G>T | NP_001161401.1:n.-2+20627G>T | |
| NM_001167930.1:c.-2+20627G>T | NP_001161402.1:n.-2+20627G>T | |
| NM_001167931.1:c.-89+20627G>T | NP_001161403.1:n.-89+20627G>T | |
| NM_002182.3:c.-89+20627G>T | NP_002173.1:n.-89+20627G>T | |
| NM_134470.3:c.-89+20627G>T | NP_608273.1:n.-89+20627G>T | |
| XM_005247433.2:c.-2+20627G>T | XP_005247490.1:n.-2+20627G>T | |
| XM_011512794.1:c.-89+20627G>T | XP_011511096.1:n.-89+20627G>T | |
| NM_001364879.1:c.-2+20627G>T | NP_001351808.1:n.-2+20627G>T | |
| NM_001364880.1:c.-2+20627G>T | NP_001351809.1:n.-2+20627G>T | |
| NM_001364881.1:c.-165-15496G>T | NP_001351810.1:n.-165-15496G>T | |
| NR_157352.1:n.135+20627G>T | ||
| NR_157353.1:n.135+20627G>T | ||
| NM_002182.4:c.-89+20627G>T MANE Select | NP_002173.1:n.-89+20627G>T | |
| NM_001167928.2:c.-252-15496G>T | NP_001161400.1:n.-252-15496G>T | |
| NM_001167929.2:c.-2+20627G>T | NP_001161401.1:n.-2+20627G>T | |
| NM_001167930.2:c.-2+20627G>T | NP_001161402.1:n.-2+20627G>T | |
| NM_001167931.2:c.-89+20627G>T | NP_001161403.1:n.-89+20627G>T | |
| NM_001364880.2:c.-2+20627G>T | NP_001351809.1:n.-2+20627G>T | |
| NM_001364881.2:c.-165-15496G>T | NP_001351810.1:n.-165-15496G>T | |
| NM_134470.4:c.-89+20627G>T | NP_608273.1:n.-89+20627G>T | |
| NR_157352.2:n.135+20627G>T | ||
| NR_157353.2:n.135+20627G>T |