gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6884416 (NFE)
Genomes Max Group AF
0.6884416 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33025060A>G , CM000675.2:g.33025060A>G | GRCh38 |
| NC_000013.10:g.33599198A>G , CM000675.1:g.33599198A>G | GRCh37 |
| NC_000013.9:g.32497198A>G | NCBI36 |
| NG_011485.1:g.13628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.819+7801A>G MANE Select | ENSP00000369442.3:n.819+7801A>G | |
| ENST00000380099.3:c.819+7801A>G | ENSP00000369442.3:n.819+7801A>G | |
| ENST00000487852.1:n.827+7801A>G | ||
| NM_004795.3:c.819+7801A>G | NP_004786.2:n.819+7801A>G | |
| XM_006719895.1:c.-103+8747A>G | XP_006719958.1:n.-103+8747A>G | |
| XM_006719895.2:c.-103+8747A>G | XP_006719958.1:n.-103+8747A>G | |
| NM_004795.4:c.819+7801A>G MANE Select | NP_004786.2:n.819+7801A>G |