gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23694429 (NFE)
Genomes Max Group AF
0.23694429 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68508657C>T , CM000676.2:g.68508657C>T | GRCh38 |
| NC_000014.8:g.68975374C>T , CM000676.1:g.68975374C>T | GRCh37 |
| NC_000014.7:g.68045127C>T | NCBI36 |
| NG_023267.1:g.693866C>T | |
| NG_023267.2:g.693879C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478014.5:n.383+40407C>T | ||
| ENST00000487270.5:c.1036+40407C>T | ENSP00000419471.1:n.1036+40407C>T | |
| ENST00000487861.5:c.1036+40407C>T | ENSP00000419881.1:n.1036+40407C>T | |
| ENST00000488612.5:c.1036+40407C>T | ENSP00000420061.1:n.1036+40407C>T | |
| ENST00000497460.5:n.497-31543C>T | ||
| ENST00000553595.5:n.613+97130C>T | ||
| ENST00000554244.5:n.418+40407C>T | ||
| NM_133509.3:c.1036+40407C>T | NP_598193.2:n.1036+40407C>T | |
| XM_005267963.2:c.1036+40407C>T | XP_005268020.1:n.1036+40407C>T | |
| XM_011537047.1:c.1036+40407C>T | XP_011535349.1:n.1036+40407C>T | |
| XM_011537048.1:c.1036+40407C>T | XP_011535350.1:n.1036+40407C>T | |
| XM_011537049.1:c.1036+40407C>T | XP_011535351.1:n.1036+40407C>T | |
| XR_943503.1:n.1407+40407C>T | ||
| NM_001321809.1:c.1036+40407C>T | NP_001308738.1:n.1036+40407C>T | |
| NM_001321810.1:c.1036+40407C>T | NP_001308739.1:n.1036+40407C>T | |
| NM_001321812.1:c.1037-31543C>T | NP_001308741.1:n.1037-31543C>T | |
| NM_001321814.1:c.1037-31543C>T | NP_001308743.1:n.1037-31543C>T | |
| NM_001321815.1:c.922+40407C>T | NP_001308744.1:n.922+40407C>T | |
| NM_001321818.1:c.1036+40407C>T | NP_001308747.1:n.1036+40407C>T | |
| NM_001321821.1:c.1036+40407C>T | NP_001308750.1:n.1036+40407C>T | |
| XM_017021546.1:c.733+40407C>T | XP_016877035.1:n.733+40407C>T | |
| XM_017021547.1:c.679+40407C>T | XP_016877036.1:n.679+40407C>T | |
| XM_017021548.1:c.304+40407C>T | XP_016877037.1:n.304+40407C>T | |
| NM_133509.4:c.1036+40407C>T | NP_598193.2:n.1036+40407C>T | |
| NM_001321809.2:c.1036+40407C>T | NP_001308738.1:n.1036+40407C>T | |
| NM_001321810.2:c.1036+40407C>T | NP_001308739.1:n.1036+40407C>T | |
| NM_001321814.2:c.1037-31543C>T | NP_001308743.1:n.1037-31543C>T | |
| NM_001321818.2:c.1036+40407C>T | NP_001308747.1:n.1036+40407C>T | |
| NM_001321821.2:c.1036+40407C>T | NP_001308750.1:n.1036+40407C>T | |
| NM_133509.5:c.1036+40407C>T | NP_598193.2:n.1036+40407C>T |