Linked Data
ClinVar Variation Id:
457143
dbSNP Id:
rs188135164
ExAC:
19:41916888 C / T
gnomAD v2:
19-41916888-C-T
gnomAD v3:
19-41410983-C-T
gnomAD v4:
19-41410983-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41410983C>T , CM000681.2:g.41410983C>T | GRCh38 |
| NC_000019.9:g.41916888C>T , CM000681.1:g.41916888C>T | GRCh37 |
| NC_000019.8:g.46608728C>T | NCBI36 |
| NG_013004.1:g.18195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.349C>T MANE Select | ENSP00000269980.2:p.Arg117Cys | |
| ENST00000269980.6:c.349C>T | ENSP00000269980.2:p.Arg117Cys | |
| ENST00000457836.6:c.283C>T | ENSP00000416000.2:p.Arg95Cys | |
| ENST00000538423.5:n.475C>T | ||
| ENST00000540732.3:c.451C>T | ENSP00000443246.1:p.Arg151Cys | |
| ENST00000541315.1:c.156C>T | ||
| ENST00000542943.5:c.288+167C>T | ENSP00000440345.1:n.288+167C>T | |
| ENST00000595085.5:c.349C>T | ENSP00000471150.2:p.Arg117Cys | |
| NM_000709.3:c.349C>T | NP_000700.1:p.Arg117Cys | |
| NM_001164783.1:c.349C>T | NP_001158255.1:p.Arg117Cys | |
| NM_000709.4:c.349C>T MANE Select | NP_000700.1:p.Arg117Cys | |
| NM_001164783.2:c.349C>T | NP_001158255.1:p.Arg117Cys |