gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000131 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
7.6e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86789631A>C , CM000664.2:g.86789631A>C | GRCh38 |
| NC_000002.11:g.87016754A>C , CM000664.1:g.87016754A>C | GRCh37 |
| NC_000002.10:g.86870265A>C | NCBI36 |
| NG_011608.2:g.23766T>G , LRG_44:g.23766T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699436.1:n.993+9T>G | ||
| ENST00000699437.1:n.343-1071T>G | ||
| ENST00000699439.1:c.514+9T>G | ENSP00000514390.1:n.514+9T>G | |
| ENST00000283635.8:c.514+9T>G MANE Select | ENSP00000283635.3:n.514+9T>G | |
| ENST00000283635.7:c.514+9T>G | ENSP00000283635.3:n.514+9T>G | |
| ENST00000352580.7:c.514+9T>G | ENSP00000321631.3:n.514+9T>G | |
| ENST00000409511.6:c.514+9T>G | ENSP00000386559.2:n.514+9T>G | |
| ENST00000409781.1:c.404-198T>G | ENSP00000387314.1:n.404-198T>G | |
| NM_001145873.1:c.514+9T>G | NP_001139345.1:n.514+9T>G | |
| NM_001768.6:c.514+9T>G , LRG_44t1:c.514+9T>G | NP_001759.3:n.514+9T>G | |
| NM_171827.3:c.514+9T>G | NP_741969.1:n.514+9T>G | |
| NR_027353.1:n.989+9T>G | ||
| NM_001382698.1:c.514+9T>G | NP_001369627.1:n.514+9T>G | |
| NM_001768.7:c.514+9T>G MANE Select | NP_001759.3:n.514+9T>G | |
| NM_171827.4:c.514+9T>G | NP_741969.1:n.514+9T>G | |
| NR_027353.2:n.955+9T>G | ||
| NR_168478.1:n.2098+9T>G | ||
| NR_168479.1:n.744-3660T>G | ||
| NR_168480.1:n.1944+9T>G | ||
| NR_168481.1:n.744-1071T>G |