Linked Data
ClinVar Variation Id:
330064
ClinVar RCV Id:
RCV000405542
dbSNP Id:
rs771732555
ExAC:
19:54395788 C / T
gnomAD v2:
19-54395788-C-T
gnomAD v4:
19-53892534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53892534C>T , CM000681.2:g.53892534C>T | GRCh38 |
| NC_000019.9:g.54395788C>T , CM000681.1:g.54395788C>T | GRCh37 |
| NC_000019.8:g.59087600C>T | NCBI36 |
| NG_009114.1:g.15322C>T , LRG_669:g.15322C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.712C>T | ENSP00000507230.1:p.Arg238Cys | |
| ENST00000682268.1:n.1010C>T | ||
| ENST00000682902.1:n.1014C>T | ||
| ENST00000683513.1:c.712C>T | ENSP00000506809.1:p.Arg238Cys | |
| ENST00000263431.4:c.712C>T MANE Select | ENSP00000263431.3:p.Arg238Cys | |
| ENST00000263431.3:c.712C>T | ENSP00000263431.3:p.Arg238Cys | |
| NM_001316329.1:c.712C>T | NP_001303258.1:p.Arg238Cys | |
| NM_002739.3:c.712C>T , LRG_669t1:c.712C>T | NP_002730.1:p.Arg238Cys | |
| NM_002739.4:c.712C>T | NP_002730.1:p.Arg238Cys | |
| NM_002739.5:c.712C>T MANE Select | NP_002730.1:p.Arg238Cys | |
| NM_001316329.2:c.712C>T | NP_001303258.1:p.Arg238Cys |