gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.87454406 (AFR)
Genomes Max Group AF
0.87454406 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.48935416T>C , CM000680.2:g.48935416T>C | GRCh38 |
| NC_000018.9:g.46461786T>C , CM000680.1:g.46461786T>C | GRCh37 |
| NC_000018.8:g.44715784T>C | NCBI36 |
| NG_023330.1:g.20296A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262158.8:c.742+7065A>G MANE Select | ENSP00000262158.2:n.742+7065A>G | |
| ENST00000262158.7:c.742+7065A>G | ENSP00000262158.2:n.742+7065A>G | |
| ENST00000262158.6:c.742+7065A>G | ENSP00000262158.2:n.742+7065A>G | |
| ENST00000545051.2:n.327+7065A>G | ||
| ENST00000585986.1:n.153+7065A>G | ||
| ENST00000586093.1:c.97+7065A>G | ENSP00000465590.1:n.97+7065A>G | |
| ENST00000589634.1:c.739+7065A>G | ENSP00000467621.1:n.739+7065A>G | |
| ENST00000591805.5:c.97+7065A>G | ENSP00000466902.1:n.97+7065A>G | |
| NM_001190821.1:c.739+7065A>G | NP_001177750.1:n.739+7065A>G | |
| NM_001190822.1:c.97+7065A>G | NP_001177751.1:n.97+7065A>G | |
| NM_001190823.1:c.178+7065A>G | NP_001177752.1:n.178+7065A>G | |
| NM_005904.3:c.742+7065A>G | NP_005895.1:n.742+7065A>G | |
| NM_001190822.2:c.97+7065A>G | NP_001177751.1:n.97+7065A>G | |
| NM_001190821.2:c.739+7065A>G | NP_001177750.1:n.739+7065A>G | |
| NM_001190823.2:c.178+7065A>G | NP_001177752.1:n.178+7065A>G | |
| NM_005904.4:c.742+7065A>G MANE Select | NP_005895.1:n.742+7065A>G |