gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001079 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
0.00000387 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65539471G>A , CM000673.2:g.65539471G>A | GRCh38 |
| NC_000011.9:g.65306942G>A , CM000673.1:g.65306942G>A | GRCh37 |
| NC_000011.8:g.65063518G>A | NCBI36 |
| NG_016437.1:g.23758C>T | |
| NG_047172.1:g.19407G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*2892-12C>T | ENSP00000435146.2:n.*2892-12C>T | |
| ENST00000526927.6:c.2633-12C>T | ENSP00000431219.2:n.2633-12C>T | |
| ENST00000529582.6:n.1671-12C>T | ||
| ENST00000530866.6:c.3362-12C>T | ENSP00000435276.2:n.3362-12C>T | |
| ENST00000532661.6:c.497-12C>T | ENSP00000436341.2:n.497-12C>T | |
| ENST00000685178.1:n.3160-12C>T | ||
| ENST00000688764.1:n.1989-12C>T | ||
| ENST00000689505.1:c.3506-12C>T | ENSP00000510401.1:n.3506-12C>T | |
| ENST00000301873.11:c.3629-12C>T MANE Select | ENSP00000301873.5:n.3629-12C>T | |
| ENST00000301873.9:c.3629-12C>T | ENSP00000301873.5:n.3629-12C>T | |
| ENST00000322147.8:c.3488-12C>T | ENSP00000326647.4:n.3488-12C>T | |
| ENST00000526927.5:c.2439-12C>T | ||
| ENST00000528516.5:c.*3133-12C>T | ENSP00000432350.1:n.*3133-12C>T | |
| ENST00000529189.5:c.497-12C>T | ENSP00000434406.1:n.497-12C>T | |
| ENST00000529371.5:c.248-12C>T | ENSP00000436032.1:n.248-12C>T | |
| ENST00000529582.5:n.1343-12C>T | ||
| ENST00000530785.5:c.638-12C>T | ENSP00000434315.1:n.638-12C>T | |
| ENST00000530866.5:c.3362-12C>T | ENSP00000435276.1:n.3362-12C>T | |
| ENST00000532661.5:c.497-12C>T | ENSP00000436341.1:n.497-12C>T | |
| ENST00000532932.5:c.1919-12C>T | ENSP00000435530.1:n.1919-12C>T | |
| ENST00000536982.5:c.638-12C>T | ENSP00000441912.2:n.638-12C>T | |
| NM_001130144.2:c.3629-12C>T | NP_001123616.1:n.3629-12C>T | |
| NM_001164266.1:c.3137-12C>T | NP_001157738.1:n.3137-12C>T | |
| NM_021070.4:c.3488-12C>T | NP_066548.2:n.3488-12C>T | |
| XM_011545032.1:c.3656-12C>T | XP_011543334.1:n.3656-12C>T | |
| XM_011545033.1:c.3515-12C>T | XP_011543335.1:n.3515-12C>T | |
| XM_011545032.2:c.3656-12C>T | XP_011543334.1:n.3656-12C>T | |
| XM_011545033.3:c.3515-12C>T | XP_011543335.1:n.3515-12C>T | |
| XR_001747875.2:n.4096-12C>T | ||
| XR_949928.3:n.3955-12C>T | ||
| NM_001130144.3:c.3629-12C>T MANE Select | NP_001123616.1:n.3629-12C>T |