gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00202993 (EAS)
Genomes Max Group AF
0.00015691 (EAS)
Exomes Max Group AF
0.00222655 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16150567G>C , CM000678.2:g.16150567G>C | GRCh38 |
| NC_000016.9:g.16244424G>C , CM000678.1:g.16244424G>C | GRCh37 |
| NC_000016.8:g.16151925G>C | NCBI36 |
| NG_007558.2:g.77905C>G | |
| NG_007558.3:g.78051C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*575+11C>G | ENSP00000483331.2:n.*575+11C>G | |
| ENST00000205557.12:c.4403+11C>G MANE Select | ENSP00000205557.7:n.4403+11C>G | |
| ENST00000640696.1:c.1217+11C>G | ENSP00000492197.1:n.1217+11C>G | |
| ENST00000205557.11:c.4403+11C>G | ENSP00000205557.7:n.4403+11C>G | |
| ENST00000456970.6:c.4028+11C>G | ENSP00000405002.2:n.4028+11C>G | |
| ENST00000576204.5:n.1266+11C>G | ||
| ENST00000622290.4:c.*1612+11C>G | ENSP00000483331.1:n.*1612+11C>G | |
| NM_001171.5:c.4403+11C>G | NP_001162.4:n.4403+11C>G | |
| XM_011522479.1:c.4370+11C>G | XP_011520781.1:n.4370+11C>G | |
| XM_011522480.1:c.4061+11C>G | XP_011520782.1:n.4061+11C>G | |
| XM_011522481.1:c.4061+11C>G | XP_011520783.1:n.4061+11C>G | |
| XR_933134.1:n.538+6277G>C | ||
| NM_001351800.1:c.4061+11C>G | NP_001338729.1:n.4061+11C>G | |
| NR_147784.1:n.4065+11C>G | ||
| XM_011522479.2:c.4370+11C>G | XP_011520781.1:n.4370+11C>G | |
| XM_011522481.3:c.4061+11C>G | XP_011520783.1:n.4061+11C>G | |
| XM_017023212.1:c.4235+11C>G | XP_016878701.1:n.4235+11C>G | |
| XM_024450261.1:c.4439+11C>G | XP_024306029.1:n.4439+11C>G | |
| NM_001171.6:c.4403+11C>G MANE Select | NP_001162.5:n.4403+11C>G |