Linked Data
ClinVar Variation Id:
55829
dbSNP Id:
rs147105770
ExAC:
16:14029554 C / T
gnomAD v2:
16-14029554-C-T
gnomAD v3:
16-13935697-C-T
gnomAD v4:
16-13935697-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935697C>T , CM000678.2:g.13935697C>T | GRCh38 |
| NC_000016.9:g.14029554C>T , CM000678.1:g.14029554C>T | GRCh37 |
| NC_000016.8:g.13937055C>T | NCBI36 |
| NG_011442.1:g.20541C>T , LRG_463:g.20541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1843C>T | ||
| ENST00000682617.1:c.1903C>T | ENSP00000507912.1:p.Arg635Trp | |
| ENST00000682826.1:c.*1079C>T | ENSP00000507274.1:n.*1079C>T | |
| ENST00000682909.1:n.3805C>T | ||
| ENST00000683277.1:n.3410C>T | ||
| ENST00000683407.1:n.1773C>T | ||
| ENST00000683962.1:c.*1459C>T | ENSP00000506854.1:n.*1459C>T | |
| ENST00000311895.8:c.1765C>T MANE Select | ENSP00000310520.7:p.Arg589Trp | |
| ENST00000311895.7:c.1765C>T | ENSP00000310520.7:p.Arg589Trp | |
| ENST00000389138.7:n.1042C>T | ||
| NM_005236.2:c.1765C>T , LRG_463t1:c.1765C>T | NP_005227.1:p.Arg589Trp | |
| XM_011522424.1:c.1903C>T | XP_011520726.1:p.Arg635Trp | |
| XM_011522425.1:c.1222C>T | XP_011520727.1:p.Arg408Trp | |
| XM_011522426.1:c.976C>T | XP_011520728.1:p.Arg326Trp | |
| XM_011522427.1:c.415C>T | XP_011520729.1:p.Arg139Trp | |
| XR_932805.1:n.1924C>T | ||
| XM_011522424.3:c.1903C>T | XP_011520726.1:p.Arg635Trp | |
| XM_017023043.2:c.976C>T | XP_016878532.1:p.Arg326Trp | |
| NM_005236.3:c.1765C>T MANE Select | NP_005227.1:p.Arg589Trp |