Linked Data
ClinVar Variation Id:
1934680
ClinVar RCV Id:
RCV002632127
dbSNP Id:
rs775252718
gnomAD v3:
7-55154017-C-T
gnomAD v4:
7-55154017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55154017C>T , CM000669.2:g.55154017C>T | GRCh38 |
| NC_000007.13:g.55221710C>T , CM000669.1:g.55221710C>T | GRCh37 |
| NC_000007.12:g.55189204C>T | NCBI36 |
| NG_007726.3:g.139986C>T , LRG_304:g.139986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.595C>T | ENSP00000413354.2:p.Arg199Cys | |
| ENST00000700144.1:n.944C>T | ||
| ENST00000344576.7:c.754C>T | ENSP00000345973.2:p.Arg252Cys | |
| ENST00000275493.7:c.754C>T MANE Select | ENSP00000275493.2:p.Arg252Cys | |
| ENST00000275493.6:c.754C>T | ENSP00000275493.2:p.Arg252Cys | |
| ENST00000342916.7:c.754C>T | ENSP00000342376.3:p.Arg252Cys | |
| ENST00000344576.6:c.754C>T | ENSP00000345973.2:p.Arg252Cys | |
| ENST00000420316.6:c.754C>T | ENSP00000413843.2:p.Arg252Cys | |
| ENST00000442591.5:c.754C>T | ENSP00000410031.1:p.Arg252Cys | |
| ENST00000454757.6:c.619C>T | ENSP00000395243.3:p.Arg207Cys | |
| ENST00000455089.5:c.619C>T | ENSP00000415559.1:p.Arg207Cys | |
| NM_005228.3:c.754C>T , LRG_304t1:c.754C>T | NP_005219.2:p.Arg252Cys | |
| NM_201282.1:c.754C>T | NP_958439.1:p.Arg252Cys | |
| NM_201283.1:c.754C>T | NP_958440.1:p.Arg252Cys | |
| NM_201284.1:c.754C>T | NP_958441.1:p.Arg252Cys | |
| NM_001346897.1:c.619C>T | NP_001333826.1:p.Arg207Cys | |
| NM_001346898.1:c.754C>T | NP_001333827.1:p.Arg252Cys | |
| NM_001346899.1:c.619C>T | NP_001333828.1:p.Arg207Cys | |
| NM_001346900.1:c.595C>T | NP_001333829.1:p.Arg199Cys | |
| NM_001346941.1:c.89-1813C>T | NP_001333870.1:n.89-1813C>T | |
| NM_005228.4:c.754C>T | NP_005219.2:p.Arg252Cys | |
| NM_005228.5:c.754C>T MANE Select | NP_005219.2:p.Arg252Cys | |
| NM_001346897.2:c.619C>T | NP_001333826.1:p.Arg207Cys | |
| NM_001346898.2:c.754C>T | NP_001333827.1:p.Arg252Cys | |
| NM_001346900.2:c.595C>T | NP_001333829.1:p.Arg199Cys | |
| NM_001346941.2:c.89-1813C>T | NP_001333870.1:n.89-1813C>T | |
| NM_201282.2:c.754C>T | NP_958439.1:p.Arg252Cys | |
| NM_201284.2:c.754C>T | NP_958441.1:p.Arg252Cys | |
| NM_001346899.2:c.619C>T | NP_001333828.1:p.Arg207Cys | |
| NM_201283.2:c.754C>T | NP_958440.1:p.Arg252Cys |