gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000502 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00000311 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101453621G>A , CM000673.2:g.101453621G>A | GRCh38 |
| NC_000011.9:g.101324352G>A , CM000673.1:g.101324352G>A | GRCh37 |
| NC_000011.8:g.100829562G>A | NCBI36 |
| NG_011476.1:g.135308C>T | |
| NG_011476.2:g.135308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2644+29C>T MANE Select | ENSP00000340913.3:n.2644+29C>T | |
| ENST00000344327.7:c.2644+29C>T | ENSP00000340913.3:n.2644+29C>T | |
| ENST00000348423.8:c.2296+29C>T | ENSP00000343672.4:n.2296+29C>T | |
| ENST00000360497.4:c.2479+29C>T | ENSP00000353687.4:n.2479+29C>T | |
| ENST00000532133.5:c.2410+29C>T | ENSP00000435574.1:n.2410+29C>T | |
| NM_004621.5:c.2644+29C>T | NP_004612.2:n.2644+29C>T | |
| XM_006718898.2:c.2569+29C>T | XP_006718961.1:n.2569+29C>T | |
| XM_011542968.1:c.2479+29C>T | XP_011541270.1:n.2479+29C>T | |
| XM_011542968.3:c.2479+29C>T | XP_011541270.1:n.2479+29C>T | |
| XM_017018221.2:c.2296+29C>T | XP_016873710.1:n.2296+29C>T | |
| XR_001747948.2:n.3001+29C>T | ||
| NM_004621.6:c.2644+29C>T MANE Select | NP_004612.2:n.2644+29C>T |