gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48888922 (AFR)
Genomes Max Group AF
0.48888922 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31084514T>G , CM000676.2:g.31084514T>G | GRCh38 |
| NC_000014.8:g.31553720T>G , CM000676.1:g.31553720T>G | GRCh37 |
| NC_000014.7:g.30623471T>G | NCBI36 |
| NG_031913.1:g.64409T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216366.9:c.*13-255T>G | ENSP00000216366.5:n.*13-255T>G | |
| ENST00000554345.6:c.367-255T>G | ENSP00000450768.2:n.367-255T>G | |
| ENST00000554609.6:c.295-255T>G | ENSP00000452383.2:n.295-255T>G | |
| ENST00000555417.6:c.306+3930T>G | ENSP00000451609.2:n.306+3930T>G | |
| ENST00000557346.6:c.306+3930T>G | ENSP00000451479.2:n.306+3930T>G | |
| ENST00000542754.7:c.306+3930T>G MANE Select | ENSP00000438170.2:n.306+3930T>G | |
| ENST00000672143.1:c.366+3870T>G | ENSP00000500016.1:n.366+3870T>G | |
| ENST00000673001.1:c.294+11541T>G | ENSP00000500716.1:n.294+11541T>G | |
| ENST00000673317.1:c.366+3870T>G | ENSP00000500890.1:n.366+3870T>G | |
| ENST00000216366.8:c.367-255T>G | ENSP00000216366.4:n.367-255T>G | |
| ENST00000334725.8:c.*39-255T>G | ENSP00000334484.4:n.*39-255T>G | |
| ENST00000542754.6:c.306+3930T>G | ENSP00000438170.2:n.306+3930T>G | |
| ENST00000554345.5:c.295-255T>G | ENSP00000450768.1:n.295-255T>G | |
| ENST00000554609.5:c.299-8393T>G | ENSP00000452383.1:n.299-8393T>G | |
| ENST00000557346.5:c.306+3930T>G | ENSP00000451479.1:n.306+3930T>G | |
| ENST00000616371.4:c.306+3930T>G | ENSP00000477631.1:n.306+3930T>G | |
| ENST00000622409.4:c.306+3930T>G | ENSP00000482876.1:n.306+3930T>G | |
| NM_001128126.2:c.306+3930T>G | NP_001121598.1:n.306+3930T>G | |
| NM_001254726.1:c.295-255T>G | NP_001241655.1:n.295-255T>G | |
| NM_001254727.1:c.*39-255T>G | NP_001241656.1:n.*39-255T>G | |
| NM_001254728.1:c.306+3930T>G | NP_001241657.1:n.306+3930T>G | |
| NM_001254729.1:c.306+3930T>G | NP_001241658.1:n.306+3930T>G | |
| NM_007077.4:c.367-255T>G | NP_009008.2:n.367-255T>G | |
| XM_005267293.3:c.367-255T>G | XP_005267350.1:n.367-255T>G | |
| XM_011536371.1:c.367-255T>G | XP_011534673.1:n.367-255T>G | |
| XM_011536372.1:c.367-255T>G | XP_011534674.1:n.367-255T>G | |
| XM_005267293.5:c.367-255T>G | XP_005267350.1:n.367-255T>G | |
| XM_011536371.3:c.367-255T>G | XP_011534673.1:n.367-255T>G | |
| XM_011536372.3:c.367-255T>G | XP_011534674.1:n.367-255T>G | |
| NM_001128126.3:c.306+3930T>G MANE Select | NP_001121598.1:n.306+3930T>G | |
| NM_001254726.2:c.295-255T>G | NP_001241655.1:n.295-255T>G | |
| NM_001254727.2:c.*39-255T>G | NP_001241656.1:n.*39-255T>G | |
| NM_001254728.2:c.306+3930T>G | NP_001241657.1:n.306+3930T>G | |
| NM_001254729.2:c.306+3930T>G | NP_001241658.1:n.306+3930T>G | |
| NM_007077.5:c.367-255T>G | NP_009008.2:n.367-255T>G |