gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46180514 (AMR)
Genomes Max Group AF
0.44973576 (EAS)
Exomes Max Group AF
0.49629123 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27611345C>G , CM000670.2:g.27611345C>G | GRCh38 |
| NC_000008.10:g.27468862C>G , CM000670.1:g.27468862C>G | GRCh37 |
| NC_000008.9:g.27524779C>G | NCBI36 |
| NG_027845.1:g.8466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316403.15:c.-29-745G>C MANE Select | ENSP00000315130.10:n.-29-745G>C | |
| ENST00000316403.14:c.-29-745G>C | ENSP00000315130.10:n.-29-745G>C | |
| ENST00000405140.7:c.-229G>C | ENSP00000385419.3:n.-229G>C | |
| ENST00000518050.1:n.47-745G>C | ||
| ENST00000519472.5:c.-29-745G>C | ENSP00000427868.1:n.-29-745G>C | |
| ENST00000519742.5:c.-30+485G>C | ENSP00000431026.1:n.-30+485G>C | |
| ENST00000522238.1:c.-29-745G>C | ENSP00000429087.1:n.-29-745G>C | |
| ENST00000522299.5:n.40-745G>C | ||
| ENST00000522413.5:c.-29-745G>C | ENSP00000428779.1:n.-29-745G>C | |
| ENST00000523396.1:c.-29-745G>C | ENSP00000428526.1:n.-29-745G>C | |
| ENST00000523500.5:c.-774G>C | ENSP00000429620.1:n.-774G>C | |
| ENST00000523589.5:c.-29-745G>C | ENSP00000431070.1:n.-29-745G>C | |
| ENST00000560566.5:c.4+256G>C | ENSP00000453247.1:n.4+256G>C | |
| NM_001831.3:c.-29-745G>C | NP_001822.3:n.-29-745G>C | |
| NR_038335.1:n.93G>C | ||
| NR_045494.1:n.151+256G>C | ||
| XM_006716284.1:c.128-745G>C | XP_006716347.1:n.128-745G>C | |
| XM_006716284.3:c.128-745G>C | XP_006716347.1:n.128-745G>C | |
| NM_001831.4:c.-29-745G>C MANE Select | NP_001822.3:n.-29-745G>C | |
| NR_038335.2:n.27G>C |