Linked Data
dbSNP Id:
rs12971120
gnomAD v2:
18-72174023-A-G
gnomAD v3:
18-74506788-A-G
gnomAD v4:
18-74506788-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.74506788A>G , CM000680.2:g.74506788A>G | GRCh38 |
| NC_000018.9:g.72174023A>G , CM000680.1:g.72174023A>G | GRCh37 |
| NC_000018.8:g.70325003A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324262.9:c.367+777A>G MANE Select | ENSP00000325548.4:n.367+777A>G | |
| ENST00000324262.8:c.367+777A>G | ENSP00000325548.4:n.367+777A>G | |
| ENST00000324301.12:c.205-4025A>G | ENSP00000325756.8:n.205-4025A>G | |
| ENST00000577355.2:c.250+777A>G | ENSP00000479635.1:n.250+777A>G | |
| ENST00000579583.5:c.205-4025A>G | ENSP00000464122.1:n.205-4025A>G | |
| ENST00000579847.5:c.367+777A>G | ENSP00000462311.1:n.367+777A>G | |
| ENST00000580672.5:c.313+777A>G | ENSP00000464214.1:n.313+777A>G | |
| ENST00000581272.5:c.367+777A>G | ENSP00000464151.1:n.367+777A>G | |
| ENST00000581513.5:c.367+777A>G | ENSP00000463702.1:n.367+777A>G | |
| ENST00000582260.5:c.*234+777A>G | ENSP00000464319.1:n.*234+777A>G | |
| ENST00000582589.5:c.367+777A>G | ENSP00000463182.1:n.367+777A>G | |
| ENST00000582620.5:n.412+777A>G | ||
| ENST00000582666.5:c.238+777A>G | ENSP00000461941.1:n.238+777A>G | |
| ENST00000583216.5:c.367+777A>G | ENSP00000462673.1:n.367+777A>G | |
| ENST00000583785.5:c.367+777A>G | ENSP00000463222.1:n.367+777A>G | |
| ENST00000584768.5:c.367+777A>G | ENSP00000482227.1:n.367+777A>G | |
| NM_001168499.1:c.205-4025A>G | NP_001161971.1:n.205-4025A>G | |
| NM_018235.2:c.367+777A>G | NP_060705.2:n.367+777A>G | |
| XM_005266728.1:c.367+777A>G | XP_005266785.1:n.367+777A>G | |
| XM_006722503.1:c.367+777A>G | XP_006722566.1:n.367+777A>G | |
| XM_011526071.1:c.367+777A>G | XP_011524373.1:n.367+777A>G | |
| XM_011526072.1:c.367+777A>G | XP_011524374.1:n.367+777A>G | |
| XM_005266728.3:c.367+777A>G | XP_005266785.1:n.367+777A>G | |
| XM_006722503.2:c.367+777A>G | XP_006722566.1:n.367+777A>G | |
| XM_011526072.2:c.367+777A>G | XP_011524374.1:n.367+777A>G | |
| XM_011526073.3:c.-571+777A>G | XP_011524375.1:n.-571+777A>G | |
| NM_018235.3:c.367+777A>G MANE Select | NP_060705.2:n.367+777A>G | |
| NM_001370248.1:c.367+777A>G | NP_001357177.1:n.367+777A>G | |
| NM_001370249.1:c.367+777A>G | NP_001357178.1:n.367+777A>G | |
| NM_001370250.1:c.367+777A>G | NP_001357179.1:n.367+777A>G | |
| NM_001370254.1:c.-571+777A>G | NP_001357183.1:n.-571+777A>G | |
| NM_001168499.2:c.205-4025A>G | NP_001161971.1:n.205-4025A>G |