Linked Data
ClinVar Variation Id:
135194
dbSNP Id:
rs587778661
gnomAD v3:
1-161328466-C-T
gnomAD v4:
1-161328466-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161328466C>T , CM000663.2:g.161328466C>T | GRCh38 |
| NC_000001.10:g.161298256C>T , CM000663.1:g.161298256C>T | GRCh37 |
| NC_000001.9:g.159564880C>T | NCBI36 |
| NG_012767.1:g.19091C>T , LRG_317:g.19091C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470743.5:c.*149C>T | ENSP00000482902.2:n.*149C>T | |
| ENST00000367975.7:c.148C>T MANE Select | ENSP00000356953.3:p.Arg50Cys | |
| ENST00000342751.8:c.148C>T | ENSP00000356952.3:p.Arg50Cys | |
| ENST00000367975.6:c.148C>T | ENSP00000356953.2:p.Arg50Cys | |
| ENST00000392169.6:c.21-12128C>T | ENSP00000376009.2:n.21-12128C>T | |
| ENST00000432287.6:c.77+4796C>T | ENSP00000390558.2:n.77+4796C>T | |
| ENST00000470743.4:c.246C>T | ||
| ENST00000504963.5:c.148C>T | ENSP00000423929.1:p.Arg50Cys | |
| ENST00000513009.5:c.77+4796C>T | ENSP00000423260.1:n.77+4796C>T | |
| ENST00000515731.1:n.622C>T | ||
| NM_001035511.1:c.148C>T | NP_001030588.1:p.Arg50Cys | |
| NM_001035512.1:c.77+4796C>T | NP_001030589.1:n.77+4796C>T | |
| NM_001035513.1:c.21-12128C>T | NP_001030590.1:n.21-12128C>T | |
| NM_001278172.1:c.77+4796C>T | NP_001265101.1:n.77+4796C>T | |
| NM_003001.3:c.148C>T , LRG_317t1:c.148C>T | NP_002992.1:p.Arg50Cys | |
| NR_103459.1:n.178C>T | ||
| NM_001035511.2:c.148C>T | NP_001030588.1:p.Arg50Cys | |
| NM_001035512.2:c.77+4796C>T | NP_001030589.1:n.77+4796C>T | |
| NM_001035513.2:c.21-12128C>T | NP_001030590.1:n.21-12128C>T | |
| NM_001278172.2:c.77+4796C>T | NP_001265101.1:n.77+4796C>T | |
| NM_003001.5:c.148C>T MANE Select | NP_002992.1:p.Arg50Cys | |
| NR_103459.2:n.173C>T |