gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70818216 (EAS)
Genomes Max Group AF
0.70818216 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.111565047A>G , CM000663.2:g.111565047A>G | GRCh38 |
| NC_000001.10:g.112107669A>G , CM000663.1:g.112107669A>G | GRCh37 |
| NC_000001.9:g.111909192A>G | NCBI36 |
| NG_032119.1:g.3929T>C , LRG_424:g.3929T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356415.5:c.-28+22538A>G | ENSP00000348786.1:n.-28+22538A>G | |
| XM_017001964.1:c.-28+22538A>G | XP_016857453.1:n.-28+22538A>G | |
| NM_001370216.1:c.-28+22538A>G | NP_001357145.1:n.-28+22538A>G | |
| NM_001370216.2:c.-28+22538A>G | NP_001357145.1:n.-28+22538A>G |