Linked Data
dbSNP Id:
rs11072089
gnomAD v2:
15-69650053-C-T
gnomAD v3:
15-69357714-C-T
gnomAD v4:
15-69357714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.69357714C>T , CM000677.2:g.69357714C>T | GRCh38 |
| NC_000015.9:g.69650053C>T , CM000677.1:g.69650053C>T | GRCh37 |
| NC_000015.8:g.67437107C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395407.7:c.-115-2252C>T MANE Select | ENSP00000378803.2:n.-115-2252C>T | |
| ENST00000395407.6:c.-115-2252C>T | ENSP00000378803.2:n.-115-2252C>T | |
| ENST00000558684.5:c.-82+20213C>T | ENSP00000453009.1:n.-82+20213C>T | |
| ENST00000561153.5:c.-115-2252C>T | ENSP00000453526.1:n.-115-2252C>T | |
| NM_001104554.1:c.-115-2252C>T | NP_001098024.1:n.-115-2252C>T | |
| NM_017705.3:c.-115-2252C>T | NP_060175.3:n.-115-2252C>T | |
| XM_011521720.1:c.-221-1603C>T | XP_011520022.1:n.-221-1603C>T | |
| XM_011521721.1:c.-115-2252C>T | XP_011520023.1:n.-115-2252C>T | |
| XM_011521722.1:c.-115-2252C>T | XP_011520024.1:n.-115-2252C>T | |
| XM_011521723.1:c.-82+20213C>T | XP_011520025.1:n.-82+20213C>T | |
| XM_011521725.1:c.-115-2252C>T | XP_011520027.1:n.-115-2252C>T | |
| XM_011521726.1:c.-89+20213C>T | XP_011520028.1:n.-89+20213C>T | |
| XM_011521727.1:c.-115-2252C>T | XP_011520029.1:n.-115-2252C>T | |
| XR_931856.1:n.317-2252C>T | ||
| XM_011521720.2:c.-221-1603C>T | XP_011520022.1:n.-221-1603C>T | |
| XM_011521723.2:c.-82+20213C>T | XP_011520025.1:n.-82+20213C>T | |
| XM_011521725.2:c.-115-2252C>T | XP_011520027.1:n.-115-2252C>T | |
| XM_011521727.2:c.-115-2252C>T | XP_011520029.1:n.-115-2252C>T | |
| XM_017022360.1:c.-221-1603C>T | XP_016877849.1:n.-221-1603C>T | |
| XM_017022361.1:c.-221-1603C>T | XP_016877850.1:n.-221-1603C>T | |
| XM_017022362.1:c.-221-1603C>T | XP_016877851.1:n.-221-1603C>T | |
| XM_017022363.1:c.-115-2252C>T | XP_016877852.1:n.-115-2252C>T | |
| XM_017022364.1:c.-115-2252C>T | XP_016877853.1:n.-115-2252C>T | |
| XM_017022366.1:c.-254-2252C>T | XP_016877855.1:n.-254-2252C>T | |
| XM_017022368.1:c.-82+20213C>T | XP_016877857.1:n.-82+20213C>T | |
| XM_024449966.1:c.-115-2252C>T | XP_024305734.1:n.-115-2252C>T | |
| NM_017705.4:c.-115-2252C>T MANE Select | NP_060175.3:n.-115-2252C>T | |
| NM_001104554.2:c.-115-2252C>T | NP_001098024.1:n.-115-2252C>T |