gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18511051 (NFE)
Genomes Max Group AF
0.18511051 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.36563371A>C , CM000683.2:g.36563371A>C | GRCh38 |
| NC_000021.8:g.37935669A>C , CM000683.1:g.37935669A>C | GRCh37 |
| NC_000021.7:g.36857539A>C | NCBI36 |
| NG_011777.1:g.18199T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342108.2:c.-220+13040T>G | ENSP00000339292.2:n.-220+13040T>G | |
| NM_001146077.1:c.-220+13040T>G | NP_001139549.1:n.-220+13040T>G | |
| XM_011529519.1:c.-353-2158T>G | XP_011527821.1:n.-353-2158T>G | |
| NM_001146077.2:c.-220+13040T>G | NP_001139549.1:n.-220+13040T>G |