gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17036837 (SAS)
Genomes Max Group AF
0.17477112 (SAS)
Exomes Max Group AF
0.16690831 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72722053A>C , CM000673.2:g.72722053A>C | GRCh38 |
| NC_000011.9:g.72433098A>C , CM000673.1:g.72433098A>C | GRCh37 |
| NC_000011.8:g.72110746A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.509+4567T>G MANE Select | ENSP00000377233.3:n.509+4567T>G | |
| ENST00000334211.12:c.-430T>G | ENSP00000335506.8:n.-430T>G | |
| ENST00000359373.9:c.509+4567T>G | ENSP00000352332.5:n.509+4567T>G | |
| ENST00000393609.7:c.509+4567T>G | ENSP00000377233.3:n.509+4567T>G | |
| ENST00000465814.5:n.36T>G | ||
| NM_001040118.2:c.509+4567T>G | NP_001035207.1:n.509+4567T>G | |
| NM_001135190.1:c.-430T>G | NP_001128662.1:n.-430T>G | |
| NM_015242.4:c.-430T>G | NP_056057.2:n.-430T>G | |
| NM_001369489.1:c.-430T>G | NP_001356418.1:n.-430T>G | |
| NR_161388.1:n.288T>G | ||
| NM_001040118.3:c.509+4567T>G MANE Select | NP_001035207.1:n.509+4567T>G | |
| NM_001135190.2:c.-430T>G | NP_001128662.1:n.-430T>G | |
| NM_015242.5:c.-430T>G | NP_056057.2:n.-430T>G |