Linked Data
ClinVar Variation Id:
380471
dbSNP Id:
rs146210288
ExAC:
16:75575299 T / C
gnomAD v2:
16-75575299-T-C
gnomAD v3:
16-75541401-T-C
gnomAD v4:
16-75541401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75541401T>C , CM000678.2:g.75541401T>C | GRCh38 |
| NC_000016.9:g.75575299T>C , CM000678.1:g.75575299T>C | GRCh37 |
| NC_000016.8:g.74132800T>C | NCBI36 |
| NG_033109.1:g.19886A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*513+1154A>G | ENSP00000510128.1:n.*513+1154A>G | |
| ENST00000686547.1:c.*680A>G | ENSP00000508790.1:n.*680A>G | |
| ENST00000686680.1:c.404A>G | ENSP00000508892.1:p.Asp135Gly | |
| ENST00000688195.1:c.347A>G | ENSP00000510115.1:p.Asp116Gly | |
| ENST00000688270.1:c.*40A>G | ENSP00000509823.1:n.*40A>G | |
| ENST00000688618.1:c.*546A>G | ENSP00000509271.1:n.*546A>G | |
| ENST00000689040.1:c.*817A>G | ENSP00000508573.1:n.*817A>G | |
| ENST00000692097.1:c.*470A>G | ENSP00000509668.1:n.*470A>G | |
| ENST00000692689.1:c.371A>G | ENSP00000509732.1:p.Asp124Gly | |
| ENST00000693457.1:c.*514-745A>G | ENSP00000508414.1:n.*514-745A>G | |
| ENST00000693682.1:c.665-745A>G | ENSP00000508670.1:n.665-745A>G | |
| ENST00000258173.11:c.719A>G MANE Select | ENSP00000258173.5:p.Asp240Gly | |
| ENST00000258173.10:c.719A>G | ENSP00000258173.5:p.Asp240Gly | |
| ENST00000460606.1:c.159+1201A>G | ||
| ENST00000562410.5:c.*521A>G | ENSP00000454582.1:n.*521A>G | |
| ENST00000564318.1:n.644A>G | ||
| ENST00000564576.1:n.529A>G | ||
| ENST00000565067.5:c.575A>G | ENSP00000457254.1:p.Asp192Gly | |
| ENST00000568377.5:c.806A>G | ENSP00000476267.1:p.Asp269Gly | |
| ENST00000569294.1:n.463A>G | ||
| ENST00000570006.5:c.*99A>G | ENSP00000455520.1:n.*99A>G | |
| NM_001077416.2:c.878A>G | NP_001070884.2:p.Asp293Gly | |
| NM_001077418.2:c.719A>G | NP_001070886.1:p.Asp240Gly | |
| NR_074083.1:n.919A>G | ||
| NM_001077418.3:c.719A>G MANE Select | NP_001070886.1:p.Asp240Gly | |
| NR_074083.2:n.885A>G |