Linked Data
ClinVar Variation Id:
2561133
dbSNP Id:
rs751984228
ExAC:
19:18266969 C / T
gnomAD v2:
19-18266969-C-T
gnomAD v3:
19-18156159-C-T
gnomAD v4:
19-18156159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156159C>T , CM000681.2:g.18156159C>T | GRCh38 |
| NC_000019.9:g.18266969C>T , CM000681.1:g.18266969C>T | GRCh37 |
| NC_000019.8:g.18127969C>T | NCBI36 |
| NG_033010.1:g.7982C>T | |
| NG_033010.2:g.7982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.280C>T MANE Select | ENSP00000222254.6:p.Arg94Cys | |
| ENST00000617130.5:c.280C>T | ENSP00000477864.2:p.Arg94Cys | |
| ENST00000617642.2:c.280C>T | ENSP00000484714.2:p.Arg94Cys | |
| ENST00000222254.12:c.280C>T | ENSP00000222254.6:p.Arg94Cys | |
| ENST00000426902.5:c.280C>T | ENSP00000395636.1:p.Arg94Cys | |
| ENST00000593731.1:c.280C>T | ENSP00000471914.1:p.Arg94Cys | |
| ENST00000617130.4:c.280C>T | ENSP00000477864.1:p.Arg94Cys | |
| ENST00000617642.1:c.280C>T | ENSP00000484714.1:p.Arg94Cys | |
| NM_005027.3:c.280C>T | NP_005018.1:p.Arg94Cys | |
| NR_073517.1:n.820C>T | ||
| NM_005027.4:c.280C>T MANE Select | NP_005018.2:p.Arg94Cys | |
| NR_073517.2:n.835C>T | ||
| NR_162071.1:n.835C>T |