gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32391384 (AFR)
Genomes Max Group AF
0.32391384 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19950010T>G , CM000684.2:g.19950010T>G | GRCh38 |
| NC_000022.10:g.19937533T>G , CM000684.1:g.19937533T>G | GRCh37 |
| NC_000022.9:g.18317533T>G | NCBI36 |
| NG_011526.1:g.13271T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361682.11:c.-92+8113T>G MANE Select | ENSP00000354511.6:n.-92+8113T>G | |
| ENST00000428707.2:c.-92+8113T>G | ENSP00000387695.2:n.-92+8113T>G | |
| ENST00000676678.1:c.-92+8435T>G | ENSP00000503719.1:n.-92+8435T>G | |
| ENST00000678769.1:c.-92+8113T>G | ENSP00000503289.1:n.-92+8113T>G | |
| ENST00000678868.1:c.-92+2520T>G | ENSP00000503583.1:n.-92+2520T>G | |
| ENST00000361682.10:c.-92+8113T>G | ENSP00000354511.6:n.-92+8113T>G | |
| ENST00000403184.5:c.-92+8113T>G | ENSP00000383966.1:n.-92+8113T>G | |
| ENST00000403710.5:c.-386+8113T>G | ENSP00000385917.1:n.-386+8113T>G | |
| ENST00000407537.5:c.-270+8113T>G | ENSP00000384654.2:n.-270+8113T>G | |
| ENST00000467943.5:n.105+8113T>G | ||
| NM_000754.3:c.-92+8113T>G | NP_000745.1:n.-92+8113T>G | |
| XM_011529887.1:c.-92+8113T>G | XP_011528189.1:n.-92+8113T>G | |
| XM_011529890.1:c.-386+8113T>G | XP_011528192.1:n.-386+8113T>G | |
| XM_011529891.1:c.-386+7835T>G | XP_011528193.1:n.-386+7835T>G | |
| NM_001362828.1:c.-386+8113T>G | NP_001349757.1:n.-386+8113T>G | |
| XM_017028595.1:c.-386+7835T>G | XP_016884084.1:n.-386+7835T>G | |
| NM_000754.4:c.-92+8113T>G MANE Select | NP_000745.1:n.-92+8113T>G | |
| NM_001362828.2:c.-386+8113T>G | NP_001349757.1:n.-386+8113T>G |