Linked Data
dbSNP Id:
rs17036170
gnomAD v2:
3-12330411-G-A
gnomAD v3:
3-12288912-G-A
gnomAD v4:
3-12288912-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12288912G>A , CM000665.2:g.12288912G>A | GRCh38 |
| NC_000003.11:g.12330411G>A , CM000665.1:g.12330411G>A | GRCh37 |
| NC_000003.10:g.12305411G>A | NCBI36 |
| NG_011749.1:g.6063G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681966.1:c.-83+892G>A | ENSP00000507572.1:n.-83+892G>A | |
| ENST00000309576.11:c.-83+892G>A | ENSP00000312472.7:n.-83+892G>A | |
| ENST00000397010.7:c.-83+1237G>A | ENSP00000380205.3:n.-83+1237G>A | |
| ENST00000397015.7:c.-9+892G>A | ENSP00000380210.3:n.-9+892G>A | |
| ENST00000397029.8:c.-9+1237G>A | ENSP00000380224.4:n.-9+1237G>A | |
| ENST00000455517.6:c.-231G>A | ENSP00000411931.2:n.-231G>A | |
| ENST00000643197.2:c.-412+892G>A | ENSP00000495840.2:n.-412+892G>A | |
| ENST00000643888.2:c.-171+892G>A | ENSP00000494934.2:n.-171+892G>A | |
| ENST00000644622.2:c.-484+892G>A | ENSP00000494873.2:n.-484+892G>A | |
| ENST00000309576.10:c.-77+892G>A | ENSP00000312472.6:n.-77+892G>A | |
| ENST00000397010.6:c.-77+1237G>A | ENSP00000380205.2:n.-77+1237G>A | |
| ENST00000397012.6:c.-299G>A | ENSP00000380207.2:n.-299G>A | |
| ENST00000397015.6:c.-3+892G>A | ENSP00000380210.2:n.-3+892G>A | |
| ENST00000397029.7:c.-3+1237G>A | ENSP00000380224.3:n.-3+1237G>A | |
| ENST00000455517.5:c.-225G>A | ENSP00000411931.1:n.-225G>A | |
| NM_005037.5:c.-3+892G>A | NP_005028.4:n.-3+892G>A | |
| NM_138712.3:c.-77+892G>A | NP_619726.2:n.-77+892G>A | |
| XM_011533841.1:c.-225G>A | XP_011532143.1:n.-225G>A | |
| NM_001354666.1:c.-77+1237G>A | NP_001341595.1:n.-77+1237G>A | |
| NM_001354669.1:c.-510+892G>A | NP_001341598.1:n.-510+892G>A | |
| NM_001354666.2:c.-77+1237G>A | NP_001341595.1:n.-77+1237G>A | |
| NM_001354669.2:c.-510+892G>A | NP_001341598.1:n.-510+892G>A | |
| NM_001374261.1:c.-77+892G>A | NP_001361190.1:n.-77+892G>A | |
| NM_005037.6:c.-3+892G>A | NP_005028.4:n.-3+892G>A | |
| NM_138712.4:c.-77+892G>A | NP_619726.2:n.-77+892G>A | |
| NM_001354666.3:c.-83+1237G>A | NP_001341595.2:n.-83+1237G>A | |
| NM_001374261.3:c.-83+892G>A | NP_001361190.2:n.-83+892G>A | |
| NM_005037.7:c.-9+892G>A | NP_005028.5:n.-9+892G>A | |
| NM_138712.5:c.-83+892G>A | NP_619726.3:n.-83+892G>A |