Linked Data
ClinVar Variation Id:
333881
ClinVar RCV Id:
RCV000271310
dbSNP Id:
rs886055529
gnomAD v2:
2-209130992-A-T
gnomAD v3:
2-208266268-A-T
gnomAD v4:
2-208266268-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208266268A>T , CM000664.2:g.208266268A>T | GRCh38 |
| NC_000002.11:g.209130992A>T , CM000664.1:g.209130992A>T | GRCh37 |
| NC_000002.10:g.208839237A>T | NCBI36 |
| NG_021188.1:g.5002A>T | |
| NG_023319.2:g.4807T>A , LRG_610:g.4807T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264380.9:c.-157A>T MANE Select | ENSP00000264380.4:n.-157A>T | |
| ENST00000264380.8:c.-157A>T | ENSP00000264380.4:n.-157A>T | |
| ENST00000392202.7:c.-157A>T | ENSP00000376038.3:n.-157A>T | |
| ENST00000443896.5:c.-157A>T | ENSP00000407692.1:n.-157A>T | |
| NM_001178000.1:c.-157A>T | NP_001171471.1:n.-157A>T | |
| NM_015040.3:c.-157A>T | NP_055855.2:n.-157A>T | |
| NM_152671.3:c.-157A>T | NP_689884.1:n.-157A>T | |
| XM_011510779.1:c.-15A>T | XP_011509081.1:n.-15A>T | |
| XM_011510788.1:c.-157A>T | XP_011509090.1:n.-157A>T | |
| XM_011510790.1:c.-942A>T | XP_011509092.1:n.-942A>T | |
| XM_011510778.3:c.-157A>T | XP_011509080.1:n.-157A>T | |
| XM_011510779.2:c.-15A>T | XP_011509081.1:n.-15A>T | |
| XM_011510780.2:c.-157A>T | XP_011509082.1:n.-157A>T | |
| XM_011510781.3:c.-157A>T | XP_011509083.1:n.-157A>T | |
| XM_011510782.3:c.-157A>T | XP_011509084.1:n.-157A>T | |
| XM_011510783.3:c.-157A>T | XP_011509085.1:n.-157A>T | |
| XM_011510784.2:c.-157A>T | XP_011509086.1:n.-157A>T | |
| XM_011510785.3:c.-157A>T | XP_011509087.1:n.-157A>T | |
| XM_011510786.3:c.-157A>T | XP_011509088.1:n.-157A>T | |
| XM_011510792.3:c.-157A>T | XP_011509094.1:n.-157A>T | |
| XM_017003570.1:c.-157A>T | XP_016859059.1:n.-157A>T | |
| XM_017003573.1:c.-465A>T | XP_016859062.1:n.-465A>T | |
| NM_015040.4:c.-157A>T MANE Select | NP_055855.2:n.-157A>T | |
| NM_001178000.2:c.-157A>T | NP_001171471.1:n.-157A>T | |
| NM_152671.4:c.-157A>T | NP_689884.1:n.-157A>T |