gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12531446 (SAS)
Genomes Max Group AF
0.12531446 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31322359A>G , CM000680.2:g.31322359A>G | GRCh38 |
| NC_000018.9:g.28902322A>G , CM000680.1:g.28902322A>G | GRCh37 |
| NC_000018.8:g.27156320A>G | NCBI36 |
| NG_011803.2:g.9271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257192.5:c.48+4011A>G MANE Select | ENSP00000257192.4:n.48+4011A>G | |
| ENST00000257192.4:c.48+4011A>G | ENSP00000257192.4:n.48+4011A>G | |
| NM_001942.3:c.48+4011A>G | NP_001933.2:n.48+4011A>G | |
| NM_001942.4:c.48+4011A>G MANE Select | NP_001933.2:n.48+4011A>G |