Linked Data
ClinVar Variation Id:
2533172
ClinVar RCV Id:
RCV004312235
dbSNP Id:
rs758600425
ExAC:
20:42089353 C / T
gnomAD v2:
20-42089353-C-T
gnomAD v4:
20-43460713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.43460713C>T , CM000682.2:g.43460713C>T | GRCh38 |
| NC_000020.10:g.42089353C>T , CM000682.1:g.42089353C>T | GRCh37 |
| NC_000020.9:g.41522767C>T | NCBI36 |
| NG_029906.1:g.7850C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244020.5:c.685C>T MANE Select | ENSP00000244020.3:p.Arg229Trp | |
| ENST00000657241.1:c.654+115C>T | ||
| ENST00000662078.1:c.674+115C>T | ENSP00000499666.1:n.674+115C>T | |
| ENST00000668808.1:c.685C>T | ENSP00000499517.1:p.Arg229Trp | |
| ENST00000670741.1:c.674+115C>T | ENSP00000499492.1:n.674+115C>T | |
| ENST00000671022.1:n.775C>T | ||
| ENST00000244020.4:c.685C>T | ENSP00000244020.3:p.Arg229Trp | |
| ENST00000483871.6:c.*545C>T | ENSP00000433544.1:n.*545C>T | |
| NM_006275.5:c.685C>T | NP_006266.2:p.Arg229Trp | |
| NR_034009.1:n.1123C>T | ||
| XR_936608.1:n.1444C>T | ||
| XR_936608.2:n.1444C>T | ||
| NM_006275.6:c.685C>T MANE Select | NP_006266.2:p.Arg229Trp | |
| NR_034009.2:n.1091C>T |