gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.69836557 (EAS)
Genomes Max Group AF
0.69836557 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104850142A>G , CM000672.2:g.104850142A>G | GRCh38 |
| NC_000010.10:g.106609900A>G , CM000672.1:g.106609900A>G | GRCh37 |
| NC_000010.9:g.106599890A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369701.8:c.695+7283A>G MANE Select | ENSP00000358715.3:n.695+7283A>G | |
| ENST00000369699.8:c.695+7283A>G | ENSP00000358713.5:n.695+7283A>G | |
| ENST00000369701.7:c.695+7283A>G | ENSP00000358715.3:n.695+7283A>G | |
| NM_014978.2:c.695+7283A>G | NP_055793.1:n.695+7283A>G | |
| XM_011539541.1:c.695+7283A>G | XP_011537843.1:n.695+7283A>G | |
| NM_014978.3:c.695+7283A>G MANE Select | NP_055793.1:n.695+7283A>G |