Linked Data
dbSNP Id:
rs75162258
gnomAD v2:
12-111718062-C-T
gnomAD v3:
12-111280258-C-T
gnomAD v4:
12-111280258-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111280258C>T , CM000674.2:g.111280258C>T | GRCh38 |
| NC_000012.11:g.111718062C>T , CM000674.1:g.111718062C>T | GRCh37 |
| NC_000012.10:g.110202445C>T | NCBI36 |
| NG_023039.1:g.251235C>T | |
| NG_023039.2:g.251235C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261726.11:c.302-11160C>T MANE Select | ENSP00000261726.6:n.302-11160C>T | |
| ENST00000261726.10:c.302-11160C>T | ENSP00000261726.6:n.302-11160C>T | |
| ENST00000397643.3:c.482-11160C>T | ENSP00000380765.3:n.482-11160C>T | |
| NM_015267.3:c.302-11160C>T | NP_056082.2:n.302-11160C>T | |
| XM_011538061.1:c.470-11160C>T | XP_011536363.1:n.470-11160C>T | |
| XM_011538062.1:c.359-11160C>T | XP_011536364.1:n.359-11160C>T | |
| XM_011538063.1:c.470-13188C>T | XP_011536365.1:n.470-13188C>T | |
| XM_011538064.1:c.278-11160C>T | XP_011536366.1:n.278-11160C>T | |
| XM_011538065.1:c.116-11160C>T | XP_011536367.1:n.116-11160C>T | |
| XM_011538066.1:c.116-11160C>T | XP_011536368.1:n.116-11160C>T | |
| XM_011538067.1:c.116-11160C>T | XP_011536369.1:n.116-11160C>T | |
| XM_011538068.1:c.116-11160C>T | XP_011536370.1:n.116-11160C>T | |
| XM_011538069.1:c.116-11160C>T | XP_011536371.1:n.116-11160C>T | |
| XM_011538070.1:c.116-11160C>T | XP_011536372.1:n.116-11160C>T | |
| XM_011538071.1:c.116-11160C>T | XP_011536373.1:n.116-11160C>T | |
| XM_011538072.1:c.116-11160C>T | XP_011536374.1:n.116-11160C>T | |
| XM_011538061.3:c.470-11160C>T | XP_011536363.1:n.470-11160C>T | |
| XM_011538063.3:c.470-13188C>T | XP_011536365.1:n.470-13188C>T | |
| XM_011538069.2:c.116-11160C>T | XP_011536371.1:n.116-11160C>T | |
| XM_011538070.2:c.116-11160C>T | XP_011536372.1:n.116-11160C>T | |
| XM_017019080.1:c.116-11160C>T | XP_016874569.1:n.116-11160C>T | |
| XM_017019081.1:c.116-11160C>T | XP_016874570.1:n.116-11160C>T | |
| NM_015267.4:c.302-11160C>T MANE Select | NP_056082.2:n.302-11160C>T | |
| NM_001370598.1:c.116-11160C>T | NP_001357527.1:n.116-11160C>T |