gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48745257 (AMR)
Genomes Max Group AF
0.48745257 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73339121G>A , CM000679.2:g.73339121G>A | GRCh38 |
| NC_000017.10:g.71335260G>A , CM000679.1:g.71335260G>A | GRCh37 |
| NC_000017.9:g.68846855G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392650.8:c.6166-181C>T MANE Select | ENSP00000376421.3:n.6166-181C>T | |
| ENST00000392650.7:c.6166-181C>T | ENSP00000376421.3:n.6166-181C>T | |
| ENST00000410094.5:n.1239-181C>T | ||
| ENST00000424778.1:c.3637-181C>T | ENSP00000407098.1:n.3637-181C>T | |
| NM_001144952.1:c.6166-181C>T | NP_001138424.1:n.6166-181C>T | |
| XM_011524914.1:c.6109-181C>T | XP_011523216.1:n.6109-181C>T | |
| XM_011524915.1:c.6166-181C>T | XP_011523217.1:n.6166-181C>T | |
| NM_001144952.2:c.6166-181C>T MANE Select | NP_001138424.1:n.6166-181C>T | |
| XM_011524914.2:c.6109-181C>T | XP_011523216.1:n.6109-181C>T | |
| XM_011524915.2:c.6166-181C>T | XP_011523217.1:n.6166-181C>T |