gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.16080894 (SAS)
Genomes Max Group AF
0.16080894 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.92560382T>C , CM000672.2:g.92560382T>C | GRCh38 |
| NC_000010.10:g.94320139T>C , CM000672.1:g.94320139T>C | GRCh37 |
| NC_000010.9:g.94310119T>C | NCBI36 |
| NG_013012.1:g.18714A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650060.2:c.98+13540A>G | ENSP00000497272.1:n.98+13540A>G | |
| ENST00000265986.11:c.98+13540A>G MANE Select | ENSP00000265986.6:n.98+13540A>G | |
| ENST00000650060.1:c.98+13540A>G | ENSP00000497272.1:n.98+13540A>G | |
| ENST00000676540.1:c.98+13540A>G | ENSP00000504633.1:n.98+13540A>G | |
| ENST00000676816.1:c.98+13540A>G | ENSP00000504709.1:n.98+13540A>G | |
| ENST00000677079.1:c.98+13540A>G | ENSP00000503417.1:n.98+13540A>G | |
| ENST00000677096.1:c.99-1167A>G | ENSP00000503793.1:n.99-1167A>G | |
| ENST00000677196.1:n.175+13540A>G | ||
| ENST00000677434.1:c.98+13540A>G | ENSP00000503274.1:n.98+13540A>G | |
| ENST00000677569.1:c.98+13540A>G | ENSP00000503462.1:n.98+13540A>G | |
| ENST00000677953.1:n.175+13540A>G | ||
| ENST00000677978.1:c.98+13540A>G | ENSP00000503310.1:n.98+13540A>G | |
| ENST00000678248.1:n.175+13540A>G | ||
| ENST00000678673.1:c.98+13540A>G | ENSP00000503082.1:n.98+13540A>G | |
| ENST00000678715.1:c.-26+13307A>G | ENSP00000503025.1:n.-26+13307A>G | |
| ENST00000678844.1:c.98+13540A>G | ENSP00000504561.1:n.98+13540A>G | |
| ENST00000678977.1:n.175+13540A>G | ||
| ENST00000679069.1:n.175+13540A>G | ||
| ENST00000679089.1:c.98+13540A>G | ENSP00000504067.1:n.98+13540A>G | |
| ENST00000679174.1:c.98+13540A>G | ENSP00000504758.1:n.98+13540A>G | |
| ENST00000679222.1:c.98+13540A>G | ENSP00000504070.1:n.98+13540A>G | |
| ENST00000679232.1:c.98+13540A>G | ENSP00000503818.1:n.98+13540A>G | |
| ENST00000679312.1:c.98+13540A>G | ENSP00000504442.1:n.98+13540A>G | |
| ENST00000265986.10:c.98+13540A>G | ENSP00000265986.6:n.98+13540A>G | |
| ENST00000478361.6:c.99-1167A>G | ENSP00000473506.1:n.99-1167A>G | |
| NM_004969.3:c.98+13540A>G | NP_004960.2:n.98+13540A>G | |
| XM_005269766.2:c.98+13540A>G | XP_005269823.1:n.98+13540A>G | |
| XM_005269769.3:c.98+13540A>G | XP_005269826.1:n.98+13540A>G | |
| XR_945727.1:n.172+13540A>G | ||
| XR_946210.1:n.1000-1167A>G | ||
| NM_001322793.1:c.98+13540A>G | NP_001309722.1:n.98+13540A>G | |
| NM_001322794.1:c.98+13540A>G | NP_001309723.1:n.98+13540A>G | |
| NM_001322795.1:c.-207-1167A>G | NP_001309724.1:n.-207-1167A>G | |
| NM_001322796.1:c.-26+12787A>G | NP_001309725.1:n.-26+12787A>G | |
| NR_136399.1:n.174+13540A>G | ||
| XM_017016188.1:c.-26+12531A>G | XP_016871677.1:n.-26+12531A>G | |
| XM_017016190.1:c.-26+13307A>G | XP_016871679.1:n.-26+13307A>G | |
| XR_001747103.2:n.172+13540A>G | ||
| XR_945727.3:n.172+13540A>G | ||
| NM_004969.4:c.98+13540A>G MANE Select | NP_004960.2:n.98+13540A>G | |
| NM_001322793.2:c.98+13540A>G | NP_001309722.1:n.98+13540A>G | |
| NM_001322794.2:c.98+13540A>G | NP_001309723.1:n.98+13540A>G | |
| NM_001322795.2:c.-207-1167A>G | NP_001309724.1:n.-207-1167A>G | |
| NR_136399.2:n.172+13540A>G |