Linked Data
ClinVar Variation Id:
2196622
ClinVar RCV Id:
RCV002624334
dbSNP Id:
rs775495591
ExAC:
1:203678456 C / T
gnomAD v2:
1-203678456-C-T
gnomAD v4:
1-203709328-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.203709328C>T , CM000663.2:g.203709328C>T | GRCh38 |
| NC_000001.10:g.203678456C>T , CM000663.1:g.203678456C>T | GRCh37 |
| NC_000001.9:g.201945079C>T | NCBI36 |
| NG_029589.1:g.87542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341360.7:c.1585C>T | ENSP00000340930.2:p.Arg529Trp | |
| ENST00000705901.1:c.1549C>T | ENSP00000516177.1:p.Arg517Trp | |
| ENST00000357681.10:c.1585C>T MANE Select | ENSP00000350310.5:p.Arg529Trp | |
| ENST00000341360.6:c.1585C>T | ENSP00000340930.2:p.Arg529Trp | |
| ENST00000357681.9:c.1585C>T | ENSP00000350310.5:p.Arg529Trp | |
| ENST00000367218.7:c.1585C>T | ENSP00000356187.3:p.Arg529Trp | |
| NM_001001396.2:c.1585C>T | NP_001001396.1:p.Arg529Trp | |
| NM_001684.4:c.1585C>T | NP_001675.3:p.Arg529Trp | |
| NM_001365783.1:c.1585C>T | NP_001352712.1:p.Arg529Trp | |
| NM_001365784.1:c.1585C>T | NP_001352713.1:p.Arg529Trp | |
| NM_001365783.2:c.1585C>T | NP_001352712.1:p.Arg529Trp | |
| NM_001684.5:c.1585C>T MANE Select | NP_001675.3:p.Arg529Trp | |
| NM_001001396.3:c.1585C>T | NP_001001396.1:p.Arg529Trp | |
| NM_001365784.2:c.1585C>T | NP_001352713.1:p.Arg529Trp |