Linked Data
ClinVar Variation Id:
926013
ClinVar RCV Id:
RCV001188296
dbSNP Id:
rs1644587227
gnomAD v4:
1-55040038-C-T
MyVariant Identifiers:
chr1:g.55505711C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040038C>T , CM000663.2:g.55040038C>T | GRCh38 |
| NC_000001.10:g.55505711C>T , CM000663.1:g.55505711C>T | GRCh37 |
| NC_000001.9:g.55278299C>T | NCBI36 |
| NG_009061.1:g.5492C>T , LRG_275:g.5492C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.201C>T | ENSP00000501161.2:p.Cys67= | |
| ENST00000710286.1:c.558C>T | ENSP00000518176.1:p.Cys186= | |
| ENST00000673726.1:c.201C>T | ENSP00000501004.1:p.Cys67= | |
| ENST00000302118.5:c.201C>T MANE Select | ENSP00000303208.5:p.Cys67= | |
| NM_174936.3:c.201C>T , LRG_275t1:c.201C>T | NP_777596.2:p.Cys67= | |
| NM_174936.4:c.201C>T MANE Select | NP_777596.2:p.Cys67= |