Linked Data
ClinVar Variation Id:
266072
dbSNP Id:
rs142030898
ExAC:
12:64879787 C / T
gnomAD v2:
12-64879787-C-T
gnomAD v3:
12-64486007-C-T
gnomAD v4:
12-64486007-C-T
PubMed:
PMID:28089114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64486007C>T , CM000674.2:g.64486007C>T | GRCh38 |
| NC_000012.11:g.64879787C>T , CM000674.1:g.64879787C>T | GRCh37 |
| NC_000012.10:g.63166054C>T | NCBI36 |
| NG_046906.1:g.38948C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331710.10:c.1330C>T MANE Select | ENSP00000329967.5:p.Arg444Ter | |
| ENST00000650708.1:c.1206C>T | ||
| ENST00000650762.1:c.1174C>T | ENSP00000498758.1:p.Arg392Ter | |
| ENST00000650786.1:c.*1475C>T | ENSP00000498280.1:n.*1475C>T | |
| ENST00000650790.1:c.1330C>T | ENSP00000498995.1:p.Arg444Ter | |
| ENST00000650997.1:c.1330C>T | ENSP00000498341.1:p.Arg444Ter | |
| ENST00000651014.1:c.1174C>T | ENSP00000498885.1:p.Arg392Ter | |
| ENST00000651262.1:c.1330C>T | ENSP00000498461.1:p.Arg444Ter | |
| ENST00000651878.1:c.*814C>T | ENSP00000499077.1:n.*814C>T | |
| ENST00000651889.1:n.1049C>T | ||
| ENST00000651947.1:n.1418C>T | ||
| ENST00000652389.1:c.1330C>T | ENSP00000498414.1:p.Arg444Ter | |
| ENST00000652537.1:c.1330C>T | ENSP00000499102.1:p.Arg444Ter | |
| ENST00000652657.1:c.1330C>T | ENSP00000498887.1:p.Arg444Ter | |
| ENST00000676490.1:c.247C>T | ||
| ENST00000676539.1:c.109C>T | ||
| ENST00000676551.1:n.1429C>T | ||
| ENST00000676654.1:n.1459C>T | ||
| ENST00000676684.1:n.1459C>T | ||
| ENST00000676774.1:n.185C>T | ||
| ENST00000676809.1:c.1330C>T | ENSP00000504298.1:p.Arg444Ter | |
| ENST00000676912.1:c.1174C>T | ENSP00000503567.1:p.Arg392Ter | |
| ENST00000676930.1:c.993-2480C>T | ENSP00000502899.1:n.993-2480C>T | |
| ENST00000677499.1:c.1330C>T | ENSP00000502875.1:p.Arg444Ter | |
| ENST00000677632.1:c.1330C>T | ENSP00000504586.1:p.Arg444Ter | |
| ENST00000677641.1:c.1330C>T | ENSP00000504637.1:p.Arg444Ter | |
| ENST00000677686.1:n.3714C>T | ||
| ENST00000677831.1:c.1330C>T | ENSP00000503760.1:p.Arg444Ter | |
| ENST00000678180.1:c.1330C>T | ENSP00000504132.1:p.Arg444Ter | |
| ENST00000678197.1:n.1313C>T | ||
| ENST00000678582.1:c.82C>T | ENSP00000504002.1:p.Arg28Ter | |
| ENST00000331710.9:c.1330C>T | ENSP00000329967.5:p.Arg444Ter | |
| ENST00000536906.1:n.646C>T | ||
| NM_013254.3:c.1330C>T | NP_037386.1:p.Arg444Ter | |
| XM_005268809.1:c.1330C>T | XP_005268866.1:p.Arg444Ter | |
| XM_005268810.1:c.1330C>T | XP_005268867.1:p.Arg444Ter | |
| XR_944524.1:n.1489C>T | ||
| XR_944525.1:n.1489C>T | ||
| XR_001748674.2:n.1444C>T | ||
| NM_013254.4:c.1330C>T MANE Select | NP_037386.1:p.Arg444Ter |