Linked Data
ClinVar Variation Id:
713516
ClinVar RCV Id:
RCV000885670
dbSNP Id:
rs145207608
ExAC:
12:131357591 C / T
gnomAD v2:
12-131357591-C-T
gnomAD v3:
12-130873046-C-T
gnomAD v4:
12-130873046-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.130873046C>T , CM000674.2:g.130873046C>T | GRCh38 |
| NC_000012.11:g.131357591C>T , CM000674.1:g.131357591C>T | GRCh37 |
| NC_000012.10:g.129923544C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543796.6:c.165C>T MANE Select | ENSP00000446215.1:p.Asn55= | |
| ENST00000392367.4:c.165C>T | ENSP00000376174.3:p.Asn55= | |
| ENST00000392369.6:c.165C>T | ENSP00000376176.2:p.Asn55= | |
| ENST00000448750.7:c.219C>T | ENSP00000396127.3:p.Asn73= | |
| ENST00000464211.6:n.160+82C>T | ||
| ENST00000477395.5:n.438C>T | ||
| ENST00000535090.5:c.153C>T | ENSP00000444042.1:p.Asn51= | |
| ENST00000536606.5:c.209C>T | ||
| ENST00000537745.5:n.272C>T | ||
| ENST00000541630.5:c.-100C>T | ENSP00000441210.1:n.-100C>T | |
| ENST00000541679.7:c.36+417C>T | ENSP00000483687.1:n.36+417C>T | |
| ENST00000543796.5:c.165C>T | ENSP00000446215.1:p.Asn55= | |
| NM_001300796.1:c.-100C>T | NP_001287725.1:n.-100C>T | |
| NM_001300797.1:c.-100C>T | NP_001287726.1:n.-100C>T | |
| NM_006325.4:c.165C>T | NP_006316.1:p.Asn55= | |
| XM_017019772.1:c.165C>T | XP_016875261.1:p.Asn55= | |
| XM_017019773.1:c.-100C>T | XP_016875262.1:n.-100C>T | |
| NM_006325.5:c.165C>T MANE Select | NP_006316.1:p.Asn55= | |
| NM_001300796.2:c.-100C>T | NP_001287725.1:n.-100C>T | |
| NM_001300797.2:c.-100C>T | NP_001287726.1:n.-100C>T |