Linked Data
dbSNP Id:
rs7964157
gnomAD v2:
12-117982220-C-T
gnomAD v3:
12-117544415-C-T
gnomAD v4:
12-117544415-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.117544415C>T , CM000674.2:g.117544415C>T | GRCh38 |
| NC_000012.11:g.117982220C>T , CM000674.1:g.117982220C>T | GRCh37 |
| NC_000012.10:g.116466603C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339824.7:c.1519-4528G>A MANE Select | ENSP00000339952.4:n.1519-4528G>A | |
| ENST00000339824.6:c.1519-4528G>A | ENSP00000339952.4:n.1519-4528G>A | |
| ENST00000425217.5:c.1432-4528G>A | ENSP00000389715.1:n.1432-4528G>A | |
| ENST00000543793.1:n.62-4528G>A | ||
| ENST00000545002.1:n.665-4528G>A | ||
| NM_173598.4:c.1432-4528G>A | NP_775869.3:n.1432-4528G>A | |
| XM_011538224.1:c.1513-4528G>A | XP_011536526.1:n.1513-4528G>A | |
| XM_011538225.1:c.1156-4528G>A | XP_011536527.1:n.1156-4528G>A | |
| XM_011538226.1:c.1519-4528G>A | XP_011536528.1:n.1519-4528G>A | |
| XM_011538227.1:c.655-4528G>A | XP_011536529.1:n.655-4528G>A | |
| XM_011538228.1:c.610-4528G>A | XP_011536530.1:n.610-4528G>A | |
| XM_011538229.1:c.1519-4528G>A | XP_011536531.1:n.1519-4528G>A | |
| XM_011538230.1:c.259-4528G>A | XP_011536532.1:n.259-4528G>A | |
| XR_944522.1:n.2353-4528G>A | ||
| XM_011538224.3:c.1513-4528G>A | XP_011536526.1:n.1513-4528G>A | |
| XM_011538225.3:c.1156-4528G>A | XP_011536527.1:n.1156-4528G>A | |
| XM_011538226.3:c.1519-4528G>A | XP_011536528.1:n.1519-4528G>A | |
| XM_011538229.3:c.1519-4528G>A | XP_011536531.1:n.1519-4528G>A | |
| XM_017019208.2:c.1519-4528G>A | XP_016874697.1:n.1519-4528G>A | |
| XM_017019209.2:c.1519-4528G>A | XP_016874698.1:n.1519-4528G>A | |
| XM_017019210.2:c.214-4528G>A | XP_016874699.1:n.214-4528G>A | |
| NM_173598.6:c.1519-4528G>A MANE Select | NP_775869.4:n.1519-4528G>A |