gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.65350195 (EAS)
Genomes Max Group AF
0.65350195 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92502602T>A , CM000672.2:g.92502602T>A | GRCh38 |
| NC_000010.10:g.94262359T>A , CM000672.1:g.94262359T>A | GRCh37 |
| NC_000010.9:g.94252339T>A | NCBI36 |
| NG_013012.1:g.76494A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650060.2:c.1430+2192A>T | ENSP00000497272.1:n.1430+2192A>T | |
| ENST00000265986.11:c.1430+2192A>T MANE Select | ENSP00000265986.6:n.1430+2192A>T | |
| ENST00000650060.1:c.1430+2192A>T | ENSP00000497272.1:n.1430+2192A>T | |
| ENST00000676540.1:c.1430+2192A>T | ENSP00000504633.1:n.1430+2192A>T | |
| ENST00000676626.1:n.2047+2192A>T | ||
| ENST00000676816.1:c.1430+2192A>T | ENSP00000504709.1:n.1430+2192A>T | |
| ENST00000676987.1:n.258+2192A>T | ||
| ENST00000677079.1:c.1430+2192A>T | ENSP00000503417.1:n.1430+2192A>T | |
| ENST00000677096.1:c.*1426+2192A>T | ENSP00000503793.1:n.*1426+2192A>T | |
| ENST00000677193.1:n.1127+2192A>T | ||
| ENST00000677196.1:n.1507+2192A>T | ||
| ENST00000677434.1:c.1430+2192A>T | ENSP00000503274.1:n.1430+2192A>T | |
| ENST00000677569.1:c.1326+3840A>T | ENSP00000503462.1:n.1326+3840A>T | |
| ENST00000677953.1:n.1953+2192A>T | ||
| ENST00000677978.1:c.1326+3840A>T | ENSP00000503310.1:n.1326+3840A>T | |
| ENST00000678026.1:n.2047+2192A>T | ||
| ENST00000678248.1:n.1507+2192A>T | ||
| ENST00000678410.1:n.223+2192A>T | ||
| ENST00000678458.1:n.1422+2192A>T | ||
| ENST00000678673.1:c.1430+2192A>T | ENSP00000503082.1:n.1430+2192A>T | |
| ENST00000678715.1:c.1307+2192A>T | ENSP00000503025.1:n.1307+2192A>T | |
| ENST00000678844.1:c.1430+2192A>T | ENSP00000504561.1:n.1430+2192A>T | |
| ENST00000678977.1:n.3005+2192A>T | ||
| ENST00000679069.1:n.1507+2192A>T | ||
| ENST00000679089.1:c.1430+2192A>T | ENSP00000504067.1:n.1430+2192A>T | |
| ENST00000679174.1:c.*183+2192A>T | ENSP00000504758.1:n.*183+2192A>T | |
| ENST00000679222.1:c.1326+3840A>T | ENSP00000504070.1:n.1326+3840A>T | |
| ENST00000679232.1:c.1326+3840A>T | ENSP00000503818.1:n.1326+3840A>T | |
| ENST00000679304.1:n.1104+2192A>T | ||
| ENST00000679312.1:c.1430+2192A>T | ENSP00000504442.1:n.1430+2192A>T | |
| ENST00000265986.10:c.1430+2192A>T | ENSP00000265986.6:n.1430+2192A>T | |
| ENST00000478361.6:c.*1640+2192A>T | ENSP00000473506.1:n.*1640+2192A>T | |
| NM_004969.3:c.1430+2192A>T | NP_004960.2:n.1430+2192A>T | |
| XM_005269766.2:c.1430+2192A>T | XP_005269823.1:n.1430+2192A>T | |
| XM_005269769.3:c.1430+2192A>T | XP_005269826.1:n.1430+2192A>T | |
| XR_945727.1:n.1504+2192A>T | ||
| NM_001322793.1:c.1430+2192A>T | NP_001309722.1:n.1430+2192A>T | |
| NM_001322794.1:c.1313+2192A>T | NP_001309723.1:n.1313+2192A>T | |
| NM_001322795.1:c.1307+2192A>T | NP_001309724.1:n.1307+2192A>T | |
| NM_001322796.1:c.1307+2192A>T | NP_001309725.1:n.1307+2192A>T | |
| NR_136399.1:n.1506+2192A>T | ||
| XM_017016187.1:c.1307+2192A>T | XP_016871676.1:n.1307+2192A>T | |
| XM_017016188.1:c.1307+2192A>T | XP_016871677.1:n.1307+2192A>T | |
| XM_017016189.1:c.1307+2192A>T | XP_016871678.1:n.1307+2192A>T | |
| XM_017016190.1:c.1307+2192A>T | XP_016871679.1:n.1307+2192A>T | |
| XR_001747103.2:n.1504+2192A>T | ||
| XR_945727.3:n.1504+2192A>T | ||
| NM_004969.4:c.1430+2192A>T MANE Select | NP_004960.2:n.1430+2192A>T | |
| NM_001322793.2:c.1430+2192A>T | NP_001309722.1:n.1430+2192A>T | |
| NM_001322794.2:c.1313+2192A>T | NP_001309723.1:n.1313+2192A>T | |
| NM_001322795.2:c.1307+2192A>T | NP_001309724.1:n.1307+2192A>T | |
| NR_136399.2:n.1504+2192A>T |