gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27147412 (AFR)
Genomes Max Group AF
0.27147412 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.159042977G>T , CM000664.2:g.159042977G>T | GRCh38 |
| NC_000002.11:g.159899489G>T , CM000664.1:g.159899489G>T | GRCh37 |
| NC_000002.10:g.159607735G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263635.8:c.-15-22919G>T MANE Select | ENSP00000263635.6:n.-15-22919G>T | |
| ENST00000263635.7:c.-15-22919G>T | ENSP00000263635.6:n.-15-22919G>T | |
| ENST00000454300.5:c.-333-22919G>T | ENSP00000396339.2:n.-333-22919G>T | |
| NM_001145909.1:c.-15-22919G>T | NP_001139381.1:n.-15-22919G>T | |
| NM_033394.2:c.-15-22919G>T | NP_203752.2:n.-15-22919G>T | |
| XM_006712810.2:c.-15-22919G>T | XP_006712873.1:n.-15-22919G>T | |
| XM_006712812.2:c.-15-22919G>T | XP_006712875.1:n.-15-22919G>T | |
| XM_011512048.1:c.4-22919G>T | XP_011510350.1:n.4-22919G>T | |
| XM_011512051.1:c.-15-22919G>T | XP_011510353.1:n.-15-22919G>T | |
| XM_011512053.1:c.-15-22919G>T | XP_011510355.1:n.-15-22919G>T | |
| XM_011512055.1:c.-15-22919G>T | XP_011510357.1:n.-15-22919G>T | |
| XM_011512058.1:c.-15-22919G>T | XP_011510360.1:n.-15-22919G>T | |
| NM_001350062.1:c.-15-22919G>T | NP_001336991.1:n.-15-22919G>T | |
| NM_001350063.1:c.-15-22919G>T | NP_001336992.1:n.-15-22919G>T | |
| NM_001350064.1:c.-15-22919G>T | NP_001336993.1:n.-15-22919G>T | |
| NM_001350065.1:c.-184-299G>T | NP_001336994.1:n.-184-299G>T | |
| NR_146421.1:n.260-22919G>T | ||
| XM_006712810.3:c.-15-22919G>T | XP_006712873.1:n.-15-22919G>T | |
| XM_006712812.3:c.-15-22919G>T | XP_006712875.1:n.-15-22919G>T | |
| XM_011512048.2:c.4-22919G>T | XP_011510350.1:n.4-22919G>T | |
| XM_011512051.2:c.-15-22919G>T | XP_011510353.1:n.-15-22919G>T | |
| XM_011512053.2:c.-15-22919G>T | XP_011510355.1:n.-15-22919G>T | |
| XM_011512055.2:c.-15-22919G>T | XP_011510357.1:n.-15-22919G>T | |
| XM_011512058.2:c.-15-22919G>T | XP_011510360.1:n.-15-22919G>T | |
| XM_017005142.1:c.-312-22919G>T | XP_016860631.1:n.-312-22919G>T | |
| XM_017005145.1:c.-184-299G>T | XP_016860634.1:n.-184-299G>T | |
| XM_017005146.1:c.-15-22919G>T | XP_016860635.1:n.-15-22919G>T | |
| XM_017005154.1:c.-184-299G>T | XP_016860643.1:n.-184-299G>T | |
| XR_002959352.1:n.252-17040G>T | ||
| XR_002959353.1:n.252-17040G>T | ||
| NM_033394.3:c.-15-22919G>T MANE Select | NP_203752.2:n.-15-22919G>T | |
| NR_146421.2:n.254-22919G>T | ||
| NM_001145909.2:c.-15-22919G>T | NP_001139381.1:n.-15-22919G>T | |
| NM_001350062.2:c.-15-22919G>T | NP_001336991.1:n.-15-22919G>T | |
| NM_001350063.2:c.-15-22919G>T | NP_001336992.1:n.-15-22919G>T | |
| NM_001350064.2:c.-15-22919G>T | NP_001336993.1:n.-15-22919G>T | |
| NM_001350065.2:c.-184-299G>T | NP_001336994.1:n.-184-299G>T |