Linked Data
ClinVar Variation Id:
1895523
ClinVar RCV Id:
RCV002574774
dbSNP Id:
rs973104815
gnomAD v2:
4-88929381-A-T
gnomAD v3:
4-88008229-A-T
gnomAD v4:
4-88008229-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008229A>T , CM000666.2:g.88008229A>T | GRCh38 |
| NC_000004.11:g.88929381A>T , CM000666.1:g.88929381A>T | GRCh37 |
| NC_000004.10:g.89148405A>T | NCBI36 |
| NG_008604.1:g.5562A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.496A>T MANE Select | ENSP00000237596.2:p.Ser166Cys | |
| ENST00000237596.6:c.496A>T | ENSP00000237596.2:p.Ser166Cys | |
| NM_000297.3:c.496A>T | NP_000288.1:p.Ser166Cys | |
| XM_011532028.1:c.496A>T | XP_011530330.1:p.Ser166Cys | |
| XR_244632.2:n.591A>T | ||
| NR_156488.1:n.583A>T | ||
| XM_011532028.2:c.496A>T | XP_011530330.1:p.Ser166Cys | |
| NM_000297.4:c.496A>T MANE Select | NP_000288.1:p.Ser166Cys | |
| NR_156488.2:n.595A>T |