gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35152634 (AFR)
Genomes Max Group AF
0.35152634 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37645860T>C , CM000683.2:g.37645860T>C | GRCh38 |
| NC_000021.8:g.39018162T>C , CM000683.1:g.39018162T>C | GRCh37 |
| NC_000021.7:g.37940032T>C | NCBI36 |
| NG_029892.2:g.275534A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609713.2:c.947-20376A>G MANE Select | ENSP00000477437.1:n.947-20376A>G | |
| ENST00000645093.1:c.947-20376A>G | ENSP00000493772.1:n.947-20376A>G | |
| ENST00000609713.1:c.947-20376A>G | ENSP00000477437.1:n.947-20376A>G | |
| NM_002240.3:c.947-20376A>G | NP_002231.1:n.947-20376A>G | |
| NM_002240.4:c.947-20376A>G | NP_002231.1:n.947-20376A>G | |
| XM_011529558.1:c.947-20376A>G | XP_011527860.1:n.947-20376A>G | |
| XM_011529559.1:c.947-20376A>G | XP_011527861.1:n.947-20376A>G | |
| NM_002240.5:c.947-20376A>G MANE Select | NP_002231.1:n.947-20376A>G |