Linked Data
ClinVar Variation Id:
540546
dbSNP Id:
rs772364535
ExAC:
16:75574045 T / C
gnomAD v2:
16-75574045-T-C
gnomAD v3:
16-75540147-T-C
gnomAD v4:
16-75540147-T-C
COSMIC:
COSM3701127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540147T>C , CM000678.2:g.75540147T>C | GRCh38 |
| NC_000016.9:g.75574045T>C , CM000678.1:g.75574045T>C | GRCh37 |
| NC_000016.8:g.74131546T>C | NCBI36 |
| NG_029853.1:g.24A>G | |
| NG_033109.1:g.21140A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*514-82A>G | ENSP00000510128.1:n.*514-82A>G | |
| ENST00000686680.1:c.483A>G | ENSP00000508892.1:p.Val161= | |
| ENST00000688195.1:c.426A>G | ENSP00000510115.1:p.Val142= | |
| ENST00000688270.1:c.*119A>G | ENSP00000509823.1:n.*119A>G | |
| ENST00000688618.1:c.*625A>G | ENSP00000509271.1:n.*625A>G | |
| ENST00000689040.1:c.*905A>G | ENSP00000508573.1:n.*905A>G | |
| ENST00000692097.1:c.*549A>G | ENSP00000509668.1:n.*549A>G | |
| ENST00000692689.1:c.450A>G | ENSP00000509732.1:p.Val150= | |
| ENST00000693457.1:c.*1023A>G | ENSP00000508414.1:n.*1023A>G | |
| ENST00000693682.1:c.*442A>G | ENSP00000508670.1:n.*442A>G | |
| ENST00000258173.11:c.798A>G MANE Select | ENSP00000258173.5:p.Val266= | |
| ENST00000258173.10:c.798A>G | ENSP00000258173.5:p.Val266= | |
| ENST00000460606.1:c.159+2455A>G | ||
| ENST00000562410.5:c.*600A>G | ENSP00000454582.1:n.*600A>G | |
| ENST00000564318.1:n.723A>G | ||
| ENST00000565067.5:c.654A>G | ENSP00000457254.1:p.Val218= | |
| ENST00000568377.5:c.885A>G | ENSP00000476267.1:p.Val295= | |
| ENST00000569294.1:n.542A>G | ||
| ENST00000570006.5:c.*178A>G | ENSP00000455520.1:n.*178A>G | |
| NM_001077416.2:c.957A>G | NP_001070884.2:p.Val319= | |
| NM_001077418.2:c.798A>G | NP_001070886.1:p.Val266= | |
| NR_074083.1:n.998A>G | ||
| NM_001077418.3:c.798A>G MANE Select | NP_001070886.1:p.Val266= | |
| NR_074083.2:n.964A>G |