Linked Data
ClinVar Variation Id:
130591
dbSNP Id:
rs2242406
ExAC:
16:75574030 C / T
gnomAD v2:
16-75574030-C-T
gnomAD v3:
16-75540132-C-T
gnomAD v4:
16-75540132-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75540132C>T , CM000678.2:g.75540132C>T | GRCh38 |
| NC_000016.9:g.75574030C>T , CM000678.1:g.75574030C>T | GRCh37 |
| NC_000016.8:g.74131531C>T | NCBI36 |
| NG_029853.1:g.39G>A | |
| NG_033109.1:g.21155G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*514-67G>A | ENSP00000510128.1:n.*514-67G>A | |
| ENST00000686680.1:c.498G>A | ENSP00000508892.1:p.Val166= | |
| ENST00000688195.1:c.441G>A | ENSP00000510115.1:p.Val147= | |
| ENST00000688270.1:c.*134G>A | ENSP00000509823.1:n.*134G>A | |
| ENST00000688618.1:c.*640G>A | ENSP00000509271.1:n.*640G>A | |
| ENST00000689040.1:c.*920G>A | ENSP00000508573.1:n.*920G>A | |
| ENST00000692097.1:c.*564G>A | ENSP00000509668.1:n.*564G>A | |
| ENST00000692689.1:c.465G>A | ENSP00000509732.1:p.Val155= | |
| ENST00000693457.1:c.*1038G>A | ENSP00000508414.1:n.*1038G>A | |
| ENST00000693682.1:c.*457G>A | ENSP00000508670.1:n.*457G>A | |
| ENST00000258173.11:c.813G>A MANE Select | ENSP00000258173.5:p.Val271= | |
| ENST00000258173.10:c.813G>A | ENSP00000258173.5:p.Val271= | |
| ENST00000460606.1:c.159+2470G>A | ||
| ENST00000562410.5:c.*615G>A | ENSP00000454582.1:n.*615G>A | |
| ENST00000564318.1:n.738G>A | ||
| ENST00000565067.5:c.669G>A | ENSP00000457254.1:p.Val223= | |
| ENST00000568377.5:c.900G>A | ENSP00000476267.1:p.Val300= | |
| ENST00000569294.1:n.557G>A | ||
| ENST00000570006.5:c.*193G>A | ENSP00000455520.1:n.*193G>A | |
| NM_001077416.2:c.972G>A | NP_001070884.2:p.Val324= | |
| NM_001077418.2:c.813G>A | NP_001070886.1:p.Val271= | |
| NR_074083.1:n.1013G>A | ||
| NM_001077418.3:c.813G>A MANE Select | NP_001070886.1:p.Val271= | |
| NR_074083.2:n.979G>A |