gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.91353923 (EAS)
Genomes Max Group AF
0.91870667 (EAS)
Exomes Max Group AF
0.91030831 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47748635C>G , CM000674.2:g.47748635C>G | GRCh38 |
| NC_000012.11:g.48142418C>G , CM000674.1:g.48142418C>G | GRCh37 |
| NC_000012.10:g.46428685C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449771.7:c.1155-93G>C MANE Select | ENSP00000395708.2:n.1155-93G>C | |
| ENST00000389212.7:c.1155-93G>C | ENSP00000373864.3:n.1155-93G>C | |
| ENST00000395358.7:c.1155-93G>C | ENSP00000378764.3:n.1155-93G>C | |
| ENST00000405493.6:c.1029-93G>C | ENSP00000384521.2:n.1029-93G>C | |
| ENST00000449771.6:c.1155-93G>C | ENSP00000395708.2:n.1155-93G>C | |
| ENST00000479866.5:n.2078G>C | ||
| ENST00000482843.5:n.1556G>C | ||
| ENST00000494764.1:n.278G>C | ||
| ENST00000495465.6:c.599-93G>C | ENSP00000449818.1:n.599-93G>C | |
| ENST00000547856.5:c.*463-93G>C | ENSP00000449905.1:n.*463-93G>C | |
| ENST00000548919.5:c.1029-93G>C | ENSP00000448480.1:n.1029-93G>C | |
| ENST00000549151.5:c.1029-93G>C | ENSP00000448619.1:n.1029-93G>C | |
| NM_001098531.2:c.1155-93G>C | NP_001092001.1:n.1155-93G>C | |
| NM_001098532.2:c.1029-93G>C | NP_001092002.1:n.1029-93G>C | |
| NM_006105.5:c.1029-93G>C | NP_006096.2:n.1029-93G>C | |
| XM_011537751.1:c.1236-93G>C | XP_011536053.1:n.1236-93G>C | |
| XM_011537752.1:c.1200-93G>C | XP_011536054.1:n.1200-93G>C | |
| XM_011537753.1:c.1191-93G>C | XP_011536055.1:n.1191-93G>C | |
| XM_011537754.1:c.1236-93G>C | XP_011536056.1:n.1236-93G>C | |
| XM_011537755.1:c.1074-93G>C | XP_011536057.1:n.1074-93G>C | |
| XM_011537756.1:c.1191-93G>C | XP_011536058.1:n.1191-93G>C | |
| XM_011537757.1:c.1236-93G>C | XP_011536059.1:n.1236-93G>C | |
| XM_011537758.1:c.723-93G>C | XP_011536060.1:n.723-93G>C | |
| XM_011537759.1:c.1236-93G>C | XP_011536061.1:n.1236-93G>C | |
| XR_944480.1:n.1373-93G>C | ||
| XM_005268571.3:c.-96-93G>C | XP_005268628.1:n.-96-93G>C | |
| XM_011537752.2:c.1200-93G>C | XP_011536054.1:n.1200-93G>C | |
| XM_011537758.2:c.723-93G>C | XP_011536060.1:n.723-93G>C | |
| XM_017018688.2:c.1200-93G>C | XP_016874177.1:n.1200-93G>C | |
| XM_024448795.1:c.-189G>C | XP_024304563.1:n.-189G>C | |
| XR_001748550.2:n.1524-93G>C | ||
| XR_001748551.2:n.1524-93G>C | ||
| XR_002957282.1:n.1469-93G>C | ||
| NM_001098531.3:c.1155-93G>C | NP_001092001.1:n.1155-93G>C | |
| NM_001098531.4:c.1155-93G>C MANE Select | NP_001092001.2:n.1155-93G>C |