Linked Data
ClinVar Variation Id:
379404
dbSNP Id:
rs199776253
ExAC:
16:75579250 G / A
gnomAD v2:
16-75579250-G-A
gnomAD v3:
16-75545352-G-A
gnomAD v4:
16-75545352-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75545352G>A , CM000678.2:g.75545352G>A | GRCh38 |
| NC_000016.9:g.75579250G>A , CM000678.1:g.75579250G>A | GRCh37 |
| NC_000016.8:g.74136751G>A | NCBI36 |
| NG_033109.1:g.15935C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*384C>T | ENSP00000510128.1:n.*384C>T | |
| ENST00000686547.1:c.*543C>T | ENSP00000508790.1:n.*543C>T | |
| ENST00000686680.1:c.267C>T | ENSP00000508892.1:p.Asn89= | |
| ENST00000688195.1:c.210C>T | ENSP00000510115.1:p.Asn70= | |
| ENST00000688270.1:c.582C>T | ENSP00000509823.1:p.Asn194= | |
| ENST00000688618.1:c.*384C>T | ENSP00000509271.1:n.*384C>T | |
| ENST00000689040.1:c.*384C>T | ENSP00000508573.1:n.*384C>T | |
| ENST00000692097.1:c.*333C>T | ENSP00000509668.1:n.*333C>T | |
| ENST00000692689.1:c.234C>T | ENSP00000509732.1:p.Asn78= | |
| ENST00000693457.1:c.*384C>T | ENSP00000508414.1:n.*384C>T | |
| ENST00000693682.1:c.582C>T | ENSP00000508670.1:p.Asn194= | |
| ENST00000258173.11:c.582C>T MANE Select | ENSP00000258173.5:p.Asn194= | |
| ENST00000258173.10:c.582C>T | ENSP00000258173.5:p.Asn194= | |
| ENST00000460606.1:c.77C>T | ||
| ENST00000562410.5:c.*384C>T | ENSP00000454582.1:n.*384C>T | |
| ENST00000564576.1:n.346-2669C>T | ||
| ENST00000565067.5:c.438+474C>T | ENSP00000457254.1:n.438+474C>T | |
| ENST00000568377.5:c.669C>T | ENSP00000476267.1:p.Asn223= | |
| ENST00000569294.1:n.326C>T | ||
| ENST00000570006.5:c.544C>T | ENSP00000455520.1:p.His182Tyr | |
| NM_001077416.2:c.741C>T | NP_001070884.2:p.Asn247= | |
| NM_001077418.2:c.582C>T | NP_001070886.1:p.Asn194= | |
| NR_074083.1:n.782C>T | ||
| NM_001077418.3:c.582C>T MANE Select | NP_001070886.1:p.Asn194= | |
| NR_074083.2:n.748C>T |