Linked Data
ClinVar Variation Id:
1937702
ClinVar RCV Id:
RCV002642883
dbSNP Id:
rs768686282
ExAC:
1:154956327 A / T
gnomAD v2:
1-154956327-A-T
gnomAD v3:
1-154983851-A-T
gnomAD v4:
1-154983851-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154983851A>T , CM000663.2:g.154983851A>T | GRCh38 |
| NC_000001.10:g.154956327A>T , CM000663.1:g.154956327A>T | GRCh37 |
| NC_000001.9:g.153222951A>T | NCBI36 |
| NG_042310.1:g.5558A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292180.8:c.157A>T MANE Select | ENSP00000292180.3:p.Thr53Ser | |
| ENST00000292180.7:c.157A>T | ENSP00000292180.3:p.Thr53Ser | |
| ENST00000315144.14:c.-135A>T | ENSP00000317296.10:n.-135A>T | |
| ENST00000368431.7:c.-780A>T | ENSP00000357416.3:n.-780A>T | |
| ENST00000368432.5:c.-135A>T | ENSP00000357417.1:n.-135A>T | |
| ENST00000368433.5:c.157A>T | ENSP00000357418.1:p.Thr53Ser | |
| ENST00000487371.1:n.213A>T | ||
| ENST00000492620.1:n.60+454A>T | ||
| NM_001184891.1:c.-135A>T | NP_001171820.1:n.-135A>T | |
| NM_001184892.1:c.-780A>T | NP_001171821.1:n.-780A>T | |
| NM_025207.4:c.157A>T | NP_079483.3:p.Thr53Ser | |
| NM_201398.2:c.-135A>T | NP_958800.1:n.-135A>T | |
| XM_005245502.2:c.-135A>T | XP_005245559.1:n.-135A>T | |
| XM_005245503.2:c.-430+454A>T | XP_005245560.1:n.-430+454A>T | |
| XM_006711559.2:c.-135A>T | XP_006711622.1:n.-135A>T | |
| XR_241098.3:n.75A>T | ||
| NM_025207.5:c.157A>T MANE Select | NP_079483.3:p.Thr53Ser | |
| NM_001184891.2:c.-135A>T | NP_001171820.1:n.-135A>T | |
| NM_001184892.2:c.-780A>T | NP_001171821.1:n.-780A>T | |
| NM_201398.3:c.-135A>T | NP_958800.1:n.-135A>T |