Linked Data
ClinVar Variation Id:
1747779
ClinVar RCV Id:
RCV002349831
dbSNP Id:
rs1185433353
gnomAD v2:
2-47604208-A-T
gnomAD v3:
2-47377069-A-T
gnomAD v4:
2-47377069-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377069A>T , CM000664.2:g.47377069A>T | GRCh38 |
| NC_000002.11:g.47604208A>T , CM000664.1:g.47604208A>T | GRCh37 |
| NC_000002.10:g.47457712A>T | NCBI36 |
| NG_012352.2:g.36907A>T , LRG_215:g.36907A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.547A>T MANE Select | ENSP00000263735.4:p.Ser183Cys | |
| ENST00000263735.8:c.547A>T | ENSP00000263735.4:p.Ser183Cys | |
| ENST00000405271.5:c.631A>T | ENSP00000385476.1:p.Ser211Cys | |
| ENST00000456133.5:c.631A>T | ENSP00000410675.1:p.Ser211Cys | |
| ENST00000490733.1:n.396A>T | ||
| NM_002354.2:c.547A>T , LRG_215t1:c.547A>T | NP_002345.2:p.Ser183Cys | |
| NM_002354.3:c.547A>T MANE Select | NP_002345.2:p.Ser183Cys |