gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80311282 (AFR)
Genomes Max Group AF
0.8027459 (AFR)
Exomes Max Group AF
0.79655062 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27608798T>C , CM000670.2:g.27608798T>C | GRCh38 |
| NC_000008.10:g.27466315T>C , CM000670.1:g.27466315T>C | GRCh37 |
| NC_000008.9:g.27522232T>C | NCBI36 |
| NG_027845.1:g.11013A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316403.15:c.246+140A>G MANE Select | ENSP00000315130.10:n.246+140A>G | |
| ENST00000316403.14:c.246+140A>G | ENSP00000315130.10:n.246+140A>G | |
| ENST00000405140.7:c.246+140A>G | ENSP00000385419.3:n.246+140A>G | |
| ENST00000518050.1:n.461A>G | ||
| ENST00000519742.5:c.246+140A>G | ENSP00000431026.1:n.246+140A>G | |
| ENST00000520491.5:c.246+140A>G | ENSP00000429881.1:n.246+140A>G | |
| ENST00000520796.5:c.246+140A>G | ENSP00000429336.1:n.246+140A>G | |
| ENST00000522299.5:n.314+140A>G | ||
| ENST00000522413.5:c.246+140A>G | ENSP00000428779.1:n.246+140A>G | |
| ENST00000523500.5:c.246+140A>G | ENSP00000429620.1:n.246+140A>G | |
| ENST00000523589.5:c.246+140A>G | ENSP00000431070.1:n.246+140A>G | |
| ENST00000560566.5:c.279+140A>G | ENSP00000453247.1:n.279+140A>G | |
| NM_001831.3:c.246+140A>G | NP_001822.3:n.246+140A>G | |
| NR_038335.1:n.567+140A>G | ||
| NR_045494.1:n.426+140A>G | ||
| XM_006716284.1:c.402+140A>G | XP_006716347.1:n.402+140A>G | |
| XM_006716284.3:c.402+140A>G | XP_006716347.1:n.402+140A>G | |
| NM_001831.4:c.246+140A>G MANE Select | NP_001822.3:n.246+140A>G | |
| NR_038335.2:n.501+140A>G |