Linked Data
ClinVar Variation Id:
7093
ClinVar RCV Id:
RCV000007510
dbSNP Id:
rs28937573
gnomAD v2:
16-67199744-C-T
gnomAD v4:
16-67165841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67165841C>T , CM000678.2:g.67165841C>T | GRCh38 |
| NC_000016.9:g.67199744C>T , CM000678.1:g.67199744C>T | GRCh37 |
| NC_000016.8:g.65757245C>T | NCBI36 |
| NG_009294.1:g.7457C>T | |
| NG_029566.1:g.340C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517867.2:n.638C>T | ||
| ENST00000523077.2:n.854C>T | ||
| ENST00000521374.6:c.355C>T MANE Select | ENSP00000430947.2:p.Arg119Cys | |
| ENST00000434833.6:c.355C>T | ENSP00000403219.2:p.Arg119Cys | |
| ENST00000517685.5:c.355C>T | ENSP00000428978.1:p.Arg119Cys | |
| ENST00000517729.5:c.229C>T | ENSP00000430299.1:p.Arg77Cys | |
| ENST00000519224.5:c.3C>T | ||
| ENST00000521314.5:c.*102C>T | ENSP00000429580.1:n.*102C>T | |
| ENST00000521374.5:c.355C>T | ENSP00000430947.1:p.Arg119Cys | |
| ENST00000521624.5:c.355C>T | ENSP00000428161.1:p.Arg119Cys | |
| ENST00000522023.1:n.422C>T | ||
| ENST00000522295.5:c.355C>T | ENSP00000427832.1:p.Arg119Cys | |
| ENST00000522870.5:n.574C>T | ||
| ENST00000523562.5:c.355C>T | ENSP00000430631.1:p.Arg119Cys | |
| ENST00000584272.5:c.355C>T | ENSP00000463706.1:p.Arg119Cys | |
| NM_001040667.2:c.355C>T | NP_001035757.1:p.Arg119Cys | |
| NM_001538.3:c.355C>T | NP_001529.2:p.Arg119Cys | |
| NM_001040667.3:c.355C>T | NP_001035757.1:p.Arg119Cys | |
| NM_001374674.1:c.355C>T | NP_001361603.1:p.Arg119Cys | |
| NM_001374675.1:c.355C>T MANE Select | NP_001361604.1:p.Arg119Cys | |
| NM_001538.4:c.355C>T | NP_001529.2:p.Arg119Cys |