Linked Data
ClinVar Variation Id:
18396
ClinVar RCV Id:
RCV000000009
dbSNP Id:
rs34599082
ExAC:
1:159175494 C / T
gnomAD v2:
1-159175494-C-T
gnomAD v3:
1-159205704-C-T
gnomAD v4:
1-159205704-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159205704C>T , CM000663.2:g.159205704C>T | GRCh38 |
| NC_000001.10:g.159175494C>T , CM000663.1:g.159175494C>T | GRCh37 |
| NC_000001.9:g.157442118C>T | NCBI36 |
| NG_011626.1:g.5985C>T | |
| NG_011626.3:g.6692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368121.6:c.271C>T | ENSP00000357103.2:p.Arg91Cys | |
| ENST00000368122.4:c.265C>T MANE Select | ENSP00000357104.1:p.Arg89Cys | |
| ENST00000435307.2:n.446C>T | ||
| ENST00000368121.3:c.271C>T | ENSP00000357103.2:p.Arg91Cys | |
| ENST00000368122.2:c.265C>T | ENSP00000357104.1:p.Arg89Cys | |
| ENST00000435307.1:c.271C>T | ENSP00000398406.1:p.Arg91Cys | |
| ENST00000537147.5:c.265C>T | ENSP00000441985.1:p.Arg89Cys | |
| NM_001122951.2:c.271C>T | NP_001116423.1:p.Arg91Cys | |
| NM_002036.3:c.265C>T | NP_002027.2:p.Arg89Cys | |
| NM_002036.4:c.265C>T MANE Select | NP_002027.2:p.Arg89Cys | |
| NM_001122951.3:c.271C>T | NP_001116423.1:p.Arg91Cys |