Linked Data
ClinVar Variation Id:
93170
dbSNP Id:
rs398123434
gnomAD v3:
16-88814450-A-G
gnomAD v4:
16-88814450-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814450A>G , CM000678.2:g.88814450A>G | GRCh38 |
| NC_000016.9:g.88880858A>G , CM000678.1:g.88880858A>G | GRCh37 |
| NC_000016.8:g.87408359A>G | NCBI36 |
| NG_008013.1:g.2485T>C | |
| NG_008667.1:g.47517T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.1558T>C MANE Select | ENSP00000268695.5:p.Trp520Arg | |
| ENST00000268695.9:c.1558T>C | ENSP00000268695.5:p.Trp520Arg | |
| ENST00000562593.5:n.4967T>C | ||
| ENST00000567525.5:c.1239T>C | ENSP00000454484.1:n.1239T>C | |
| ENST00000568613.5:c.1677T>C | ENSP00000457921.1:n.1677T>C | |
| NM_000512.4:c.1558T>C | NP_000503.1:p.Trp520Arg | |
| XM_005256302.1:c.1576T>C | XP_005256359.1:p.Trp526Arg | |
| NM_001323543.1:c.1003T>C | NP_001310472.1:p.Trp335Arg | |
| NM_001323544.1:c.1576T>C | NP_001310473.1:p.Trp526Arg | |
| XM_005256301.3:c.*2722T>C | XP_005256358.1:n.*2722T>C | |
| XM_011522982.2:c.*2722T>C | XP_011521284.1:n.*2722T>C | |
| XM_017023112.2:c.*2980T>C | XP_016878601.1:n.*2980T>C | |
| XM_017023113.1:c.*2722T>C | XP_016878602.1:n.*2722T>C | |
| NM_000512.5:c.1558T>C MANE Select | NP_000503.1:p.Trp520Arg | |
| NM_001323543.2:c.1003T>C | NP_001310472.1:p.Trp335Arg | |
| NM_001323544.2:c.1576T>C | NP_001310473.1:p.Trp526Arg |