Linked Data
ClinVar Variation Id:
2042720
dbSNP Id:
rs779314743
ExAC:
16:75573978 T / C
gnomAD v2:
16-75573978-T-C
gnomAD v3:
16-75540080-T-C
gnomAD v4:
16-75540080-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540080T>C , CM000678.2:g.75540080T>C | GRCh38 |
| NC_000016.9:g.75573978T>C , CM000678.1:g.75573978T>C | GRCh37 |
| NC_000016.8:g.74131479T>C | NCBI36 |
| NG_029853.1:g.91A>G | |
| NG_033109.1:g.21207A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*514-15A>G | ENSP00000510128.1:n.*514-15A>G | |
| ENST00000686680.1:c.550A>G | ENSP00000508892.1:p.Ile184Val | |
| ENST00000688195.1:c.493A>G | ENSP00000510115.1:p.Ile165Val | |
| ENST00000688270.1:c.*186A>G | ENSP00000509823.1:n.*186A>G | |
| ENST00000688618.1:c.*692A>G | ENSP00000509271.1:n.*692A>G | |
| ENST00000689040.1:c.*972A>G | ENSP00000508573.1:n.*972A>G | |
| ENST00000692097.1:c.*616A>G | ENSP00000509668.1:n.*616A>G | |
| ENST00000692689.1:c.517A>G | ENSP00000509732.1:p.Ile173Val | |
| ENST00000693457.1:c.*1090A>G | ENSP00000508414.1:n.*1090A>G | |
| ENST00000693682.1:c.*509A>G | ENSP00000508670.1:n.*509A>G | |
| ENST00000258173.11:c.865A>G MANE Select | ENSP00000258173.5:p.Ile289Val | |
| ENST00000258173.10:c.865A>G | ENSP00000258173.5:p.Ile289Val | |
| ENST00000460606.1:c.159+2522A>G | ||
| ENST00000562410.5:c.*667A>G | ENSP00000454582.1:n.*667A>G | |
| ENST00000564318.1:n.790A>G | ||
| ENST00000565067.5:c.721A>G | ENSP00000457254.1:p.Ile241Val | |
| ENST00000568377.5:c.952A>G | ENSP00000476267.1:p.Ile318Val | |
| ENST00000570006.5:c.*245A>G | ENSP00000455520.1:n.*245A>G | |
| NM_001077416.2:c.1024A>G | NP_001070884.2:p.Ile342Val | |
| NM_001077418.2:c.865A>G | NP_001070886.1:p.Ile289Val | |
| NR_074083.1:n.1065A>G | ||
| NM_001077418.3:c.865A>G MANE Select | NP_001070886.1:p.Ile289Val | |
| NR_074083.2:n.1031A>G |