Linked Data
ClinVar Variation Id:
40575
dbSNP Id:
rs116247741
gnomAD v2:
3-12705552-C-T
gnomAD v3:
3-12664053-C-T
gnomAD v4:
3-12664053-C-T
ERepo:
CA181005/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12664053C>T , CM000665.2:g.12664053C>T | GRCh38 |
| NC_000003.11:g.12705552C>T , CM000665.1:g.12705552C>T | GRCh37 |
| NC_000003.10:g.12680552C>T | NCBI36 |
| NG_007467.1:g.5127G>A , LRG_413:g.5127G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000423275.6:c.-267G>A | ENSP00000401088.1:n.-267G>A | |
| ENST00000491290.2:n.111G>A | ||
| ENST00000684903.1:c.-267G>A | ENSP00000508612.1:n.-267G>A | |
| ENST00000685348.1:c.-267G>A | ENSP00000510285.1:n.-267G>A | |
| ENST00000685437.1:c.-360G>A | ENSP00000508794.1:n.-360G>A | |
| ENST00000685738.1:c.-267G>A | ENSP00000510156.1:n.-267G>A | |
| ENST00000685740.1:c.-453G>A | ENSP00000510566.1:n.-453G>A | |
| ENST00000686409.1:n.25G>A | ||
| ENST00000686455.1:n.97G>A | ||
| ENST00000686479.1:n.105G>A | ||
| ENST00000686762.1:c.-267G>A | ENSP00000509767.1:n.-267G>A | |
| ENST00000687257.1:n.69G>A | ||
| ENST00000687326.1:c.-267G>A | ENSP00000509665.1:n.-267G>A | |
| ENST00000687923.1:c.-267G>A | ENSP00000510255.1:n.-267G>A | |
| ENST00000687940.1:n.111G>A | ||
| ENST00000688269.1:n.33G>A | ||
| ENST00000688444.1:n.60G>A | ||
| ENST00000688543.1:c.-267G>A | ENSP00000509612.1:n.-267G>A | |
| ENST00000688625.1:c.-267G>A | ENSP00000509522.1:n.-267G>A | |
| ENST00000688779.1:n.65G>A | ||
| ENST00000688803.1:n.64G>A | ||
| ENST00000689226.1:c.-267G>A | ENSP00000510613.1:n.-267G>A | |
| ENST00000689389.1:c.-267G>A | ENSP00000510213.1:n.-267G>A | |
| ENST00000689418.1:c.-267G>A | ENSP00000509467.1:n.-267G>A | |
| ENST00000689876.1:c.-267G>A | ENSP00000508535.1:n.-267G>A | |
| ENST00000689914.1:c.-267G>A | ENSP00000509847.1:n.-267G>A | |
| ENST00000690397.1:c.-267G>A | ENSP00000508730.1:n.-267G>A | |
| ENST00000690460.1:c.-267G>A | ENSP00000509106.1:n.-267G>A | |
| ENST00000690625.1:n.37G>A | ||
| ENST00000691396.1:c.-267G>A | ENSP00000510712.1:n.-267G>A | |
| ENST00000691718.1:c.-603G>A | ENSP00000510160.1:n.-603G>A | |
| ENST00000691724.1:c.-267G>A | ENSP00000509255.1:n.-267G>A | |
| ENST00000691779.1:c.-267G>A | ENSP00000508592.1:n.-267G>A | |
| ENST00000692093.1:c.-360G>A | ENSP00000509669.1:n.-360G>A | |
| ENST00000692311.1:n.107G>A | ||
| ENST00000692558.1:n.99G>A | ||
| ENST00000692773.1:c.-267G>A | ENSP00000509055.1:n.-267G>A | |
| ENST00000692777.1:n.62G>A | ||
| ENST00000692959.1:c.-784G>A | ENSP00000509353.1:n.-784G>A | |
| ENST00000693312.1:c.-259G>A | ENSP00000508686.1:n.-259G>A | |
| ENST00000693664.1:c.-267G>A | ENSP00000509614.1:n.-267G>A | |
| ENST00000251849.9:c.-267G>A MANE Select | ENSP00000251849.4:n.-267G>A | |
| ENST00000442415.7:c.-267G>A | ENSP00000401888.2:n.-267G>A | |
| ENST00000251849.8:c.-267G>A | ENSP00000251849.4:n.-267G>A | |
| ENST00000416093.1:c.-267G>A | ENSP00000391265.1:n.-267G>A | |
| ENST00000423275.5:c.-267G>A | ENSP00000401088.1:n.-267G>A | |
| ENST00000442415.6:c.-267G>A | ENSP00000401888.2:n.-267G>A | |
| NM_002880.3:c.-267G>A , LRG_413t1:c.-267G>A | NP_002871.1:n.-267G>A | |
| XM_005265357.1:c.-267G>A | XP_005265414.1:n.-267G>A | |
| XM_005265358.3:c.-397G>A | XP_005265415.1:n.-397G>A | |
| XM_005265359.3:c.-397G>A | XP_005265416.1:n.-397G>A | |
| XM_005265360.1:c.-267G>A | XP_005265417.1:n.-267G>A | |
| XM_011533974.1:c.-360G>A | XP_011532276.1:n.-360G>A | |
| XM_011533975.1:c.-490G>A | XP_011532277.1:n.-490G>A | |
| NM_001354689.1:c.-267G>A | NP_001341618.1:n.-267G>A | |
| NM_001354691.1:c.-490G>A | NP_001341620.1:n.-490G>A | |
| NM_001354692.1:c.-397G>A | NP_001341621.1:n.-397G>A | |
| NM_001354693.1:c.-267G>A | NP_001341622.1:n.-267G>A | |
| NM_001354694.1:c.-397G>A | NP_001341623.1:n.-397G>A | |
| NM_001354695.1:c.-397G>A | NP_001341624.1:n.-397G>A | |
| NR_148940.1:n.149G>A | ||
| NR_148941.1:n.149G>A | ||
| NR_148942.1:n.149G>A | ||
| XM_011533974.3:c.-360G>A | XP_011532276.1:n.-360G>A | |
| XR_001740227.1:n.65G>A | ||
| NM_001354689.3:c.-267G>A | NP_001341618.1:n.-267G>A | |
| NM_001354691.2:c.-490G>A | NP_001341620.1:n.-490G>A | |
| NM_001354692.2:c.-397G>A | NP_001341621.1:n.-397G>A | |
| NM_001354693.2:c.-267G>A | NP_001341622.1:n.-267G>A | |
| NM_001354694.2:c.-397G>A | NP_001341623.1:n.-397G>A | |
| NM_001354695.2:c.-397G>A | NP_001341624.1:n.-397G>A | |
| NR_148940.2:n.65G>A | ||
| NR_148941.2:n.65G>A | ||
| NR_148942.2:n.65G>A | ||
| NM_001354691.3:c.-490G>A | NP_001341620.1:n.-490G>A | |
| NM_001354692.3:c.-397G>A | NP_001341621.1:n.-397G>A | |
| NM_001354693.3:c.-267G>A | NP_001341622.1:n.-267G>A | |
| NM_001354694.3:c.-397G>A | NP_001341623.1:n.-397G>A | |
| NM_001354695.3:c.-397G>A | NP_001341624.1:n.-397G>A | |
| NM_002880.4:c.-267G>A MANE Select | NP_002871.1:n.-267G>A | |
| NR_148940.3:n.65G>A | ||
| NR_148941.3:n.65G>A | ||
| NR_148942.3:n.65G>A |