Linked Data
dbSNP Id:
rs1265564
gnomAD v2:
12-111708458-A-C
gnomAD v3:
12-111270654-A-C
gnomAD v4:
12-111270654-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111270654A>C , CM000674.2:g.111270654A>C | GRCh38 |
| NC_000012.11:g.111708458A>C , CM000674.1:g.111708458A>C | GRCh37 |
| NC_000012.10:g.110192841A>C | NCBI36 |
| NG_023039.1:g.241631A>C | |
| NG_023039.2:g.241631A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261726.11:c.301+6815A>C MANE Select | ENSP00000261726.6:n.301+6815A>C | |
| ENST00000261726.10:c.301+6815A>C | ENSP00000261726.6:n.301+6815A>C | |
| ENST00000397643.3:c.481+6815A>C | ENSP00000380765.3:n.481+6815A>C | |
| ENST00000551604.2:n.562A>C | ||
| NM_015267.3:c.301+6815A>C | NP_056082.2:n.301+6815A>C | |
| XM_011538061.1:c.469+6815A>C | XP_011536363.1:n.469+6815A>C | |
| XM_011538062.1:c.358+6815A>C | XP_011536364.1:n.358+6815A>C | |
| XM_011538063.1:c.469+6815A>C | XP_011536365.1:n.469+6815A>C | |
| XM_011538064.1:c.277+6815A>C | XP_011536366.1:n.277+6815A>C | |
| XM_011538065.1:c.115+6815A>C | XP_011536367.1:n.115+6815A>C | |
| XM_011538066.1:c.115+6815A>C | XP_011536368.1:n.115+6815A>C | |
| XM_011538067.1:c.115+6815A>C | XP_011536369.1:n.115+6815A>C | |
| XM_011538068.1:c.115+6815A>C | XP_011536370.1:n.115+6815A>C | |
| XM_011538069.1:c.115+6815A>C | XP_011536371.1:n.115+6815A>C | |
| XM_011538070.1:c.115+6815A>C | XP_011536372.1:n.115+6815A>C | |
| XM_011538071.1:c.115+6815A>C | XP_011536373.1:n.115+6815A>C | |
| XM_011538072.1:c.115+6815A>C | XP_011536374.1:n.115+6815A>C | |
| XM_011538061.3:c.469+6815A>C | XP_011536363.1:n.469+6815A>C | |
| XM_011538063.3:c.469+6815A>C | XP_011536365.1:n.469+6815A>C | |
| XM_011538069.2:c.115+6815A>C | XP_011536371.1:n.115+6815A>C | |
| XM_011538070.2:c.115+6815A>C | XP_011536372.1:n.115+6815A>C | |
| XM_017019080.1:c.115+6815A>C | XP_016874569.1:n.115+6815A>C | |
| XM_017019081.1:c.115+6815A>C | XP_016874570.1:n.115+6815A>C | |
| NM_015267.4:c.301+6815A>C MANE Select | NP_056082.2:n.301+6815A>C | |
| NM_001370598.1:c.115+6815A>C | NP_001357527.1:n.115+6815A>C |