gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26185064 (EAS)
Genomes Max Group AF
0.26185064 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56777732T>C , CM000674.2:g.56777732T>C | GRCh38 |
| NC_000012.11:g.57171516T>C , CM000674.1:g.57171516T>C | GRCh37 |
| NC_000012.10:g.55457783T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322165.1:c.313+3567T>C MANE Select | ENSP00000318631.1:n.313+3567T>C | |
| ENST00000554150.5:c.313+3567T>C | ENSP00000452273.1:n.313+3567T>C | |
| ENST00000554643.5:c.313+3567T>C | ENSP00000451406.1:n.313+3567T>C | |
| ENST00000555159.5:c.313+3567T>C | ENSP00000450698.1:n.313+3567T>C | |
| ENST00000555805.5:c.313+3567T>C | ENSP00000451753.1:n.313+3567T>C | |
| NM_003725.3:c.313+3567T>C | NP_003716.2:n.313+3567T>C | |
| XM_005269207.1:c.313+3567T>C | XP_005269264.1:n.313+3567T>C | |
| XM_005269208.1:c.313+3567T>C | XP_005269265.1:n.313+3567T>C | |
| XM_005269209.1:c.313+3567T>C | XP_005269266.1:n.313+3567T>C | |
| XM_006719672.1:c.313+3567T>C | XP_006719735.1:n.313+3567T>C | |
| XM_011538925.1:c.313+3567T>C | XP_011537227.1:n.313+3567T>C | |
| XM_011538926.1:c.313+3567T>C | XP_011537228.1:n.313+3567T>C | |
| XM_011538927.1:c.313+3567T>C | XP_011537229.1:n.313+3567T>C | |
| XR_245961.1:n.678+3567T>C | ||
| XM_024449249.1:c.313+3567T>C | XP_024305017.1:n.313+3567T>C | |
| XM_024449250.1:c.313+3567T>C | XP_024305018.1:n.313+3567T>C | |
| XM_024449251.1:c.313+3567T>C | XP_024305019.1:n.313+3567T>C | |
| NM_003725.4:c.313+3567T>C MANE Select | NP_003716.2:n.313+3567T>C |