Linked Data
ClinVar Variation Id:
3052576
ClinVar RCV Id:
RCV003971355
dbSNP Id:
rs183565903
ExAC:
1:17727847 T / C
gnomAD v2:
1-17727847-T-C
gnomAD v3:
1-17401351-T-C
gnomAD v4:
1-17401351-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17401351T>C , CM000663.2:g.17401351T>C | GRCh38 |
| NC_000001.10:g.17727847T>C , CM000663.1:g.17727847T>C | GRCh37 |
| NC_000001.9:g.17600434T>C | NCBI36 |
| NG_032943.1:g.34106T>C | |
| NG_032943.2:g.34106T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1998T>C MANE Select | ENSP00000483125.1:p.Cys666= | |
| NM_207421.4:c.1998T>C MANE Select | NP_997304.3:p.Cys666= |