gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001955 (NFE)
Exomes Max Group AF
0.00002009 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72722056T>C , CM000673.2:g.72722056T>C | GRCh38 |
| NC_000011.9:g.72433101T>C , CM000673.1:g.72433101T>C | GRCh37 |
| NC_000011.8:g.72110749T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.509+4564A>G MANE Select | ENSP00000377233.3:n.509+4564A>G | |
| ENST00000334211.12:c.-433A>G | ENSP00000335506.8:n.-433A>G | |
| ENST00000359373.9:c.509+4564A>G | ENSP00000352332.5:n.509+4564A>G | |
| ENST00000393609.7:c.509+4564A>G | ENSP00000377233.3:n.509+4564A>G | |
| ENST00000465814.5:n.33A>G | ||
| NM_001040118.2:c.509+4564A>G | NP_001035207.1:n.509+4564A>G | |
| NM_001135190.1:c.-433A>G | NP_001128662.1:n.-433A>G | |
| NM_015242.4:c.-433A>G | NP_056057.2:n.-433A>G | |
| NM_001369489.1:c.-433A>G | NP_001356418.1:n.-433A>G | |
| NR_161388.1:n.285A>G | ||
| NM_001040118.3:c.509+4564A>G MANE Select | NP_001035207.1:n.509+4564A>G | |
| NM_001135190.2:c.-433A>G | NP_001128662.1:n.-433A>G | |
| NM_015242.5:c.-433A>G | NP_056057.2:n.-433A>G |