gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.76296726 (AMR)
Genomes Max Group AF
0.76296726 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90485154C>T , CM000667.2:g.90485154C>T | GRCh38 |
| NC_000005.9:g.89780971C>T , CM000667.1:g.89780971C>T | GRCh37 |
| NC_000005.8:g.89816727C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399107.6:c.-43-371C>T | ENSP00000382058.2:n.-43-371C>T | |
| ENST00000651687.1:c.-43-371C>T MANE Select | ENSP00000498469.1:n.-43-371C>T | |
| ENST00000399107.5:c.-43-371C>T | ENSP00000382058.1:n.-43-371C>T | |
| ENST00000503373.5:c.-43-371C>T | ENSP00000422892.1:n.-43-371C>T | |
| ENST00000503973.5:c.-43-371C>T | ENSP00000422164.1:n.-43-371C>T | |
| ENST00000504930.5:c.-33-381C>T | ENSP00000421637.1:n.-33-381C>T | |
| ENST00000505345.5:c.-43-371C>T | ENSP00000427412.1:n.-43-371C>T | |
| ENST00000512239.1:c.-43-371C>T | ENSP00000424970.1:n.-43-371C>T | |
| ENST00000514483.5:c.-43-371C>T | ENSP00000425617.1:n.-43-371C>T | |
| ENST00000622335.1:c.-43-371C>T | ENSP00000478166.1:n.-43-371C>T | |
| NM_006467.2:c.-43-371C>T | NP_006458.2:n.-43-371C>T | |
| XM_005248404.2:c.-33-381C>T | XP_005248461.1:n.-33-381C>T | |
| XM_006714519.2:c.-43-371C>T | XP_006714582.1:n.-43-371C>T | |
| XM_006714520.2:c.-33-381C>T | XP_006714583.1:n.-33-381C>T | |
| XM_011543100.1:c.-43-371C>T | XP_011541402.1:n.-43-371C>T | |
| XM_011543101.1:c.-33-381C>T | XP_011541403.1:n.-33-381C>T | |
| XM_011543102.1:c.-33-381C>T | XP_011541404.1:n.-33-381C>T | |
| XM_011543103.1:c.-43-371C>T | XP_011541405.1:n.-43-371C>T | |
| XM_011543104.1:c.-33-381C>T | XP_011541406.1:n.-33-381C>T | |
| XM_011543106.1:c.-43-371C>T | XP_011541408.1:n.-43-371C>T | |
| XM_005248404.4:c.-33-381C>T | XP_005248461.1:n.-33-381C>T | |
| XM_011543100.3:c.-43-371C>T | XP_011541402.1:n.-43-371C>T | |
| XM_011543101.3:c.-33-381C>T | XP_011541403.1:n.-33-381C>T | |
| XM_011543102.3:c.-33-381C>T | XP_011541404.1:n.-33-381C>T | |
| XM_011543103.3:c.-43-371C>T | XP_011541405.1:n.-43-371C>T | |
| XM_011543104.3:c.-33-381C>T | XP_011541406.1:n.-33-381C>T | |
| XM_017008957.2:c.-414C>T | XP_016864446.1:n.-414C>T | |
| NM_006467.3:c.-43-371C>T MANE Select | NP_006458.2:n.-43-371C>T | |
| NM_001370351.1:c.-33-381C>T | NP_001357280.1:n.-33-381C>T | |
| NM_001370352.1:c.-43-371C>T | NP_001357281.1:n.-43-371C>T | |
| NM_001370353.1:c.-33-381C>T | NP_001357282.1:n.-33-381C>T | |
| NM_001370354.1:c.-43-371C>T | NP_001357283.1:n.-43-371C>T |