Linked Data
ClinVar Variation Id:
42030
ClinVar RCV Id:
RCV000034868
dbSNP Id:
rs387907347
ExAC:
14:69346704 C / T
gnomAD v2:
14-69346704-C-T
gnomAD v4:
14-68879987-C-T
PubMed:
PMID:23434115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68879987C>T , CM000676.2:g.68879987C>T | GRCh38 |
| NC_000014.8:g.69346704C>T , CM000676.1:g.69346704C>T | GRCh37 |
| NC_000014.7:g.68416457C>T | NCBI36 |
| NG_029480.1:g.104380G>A , LRG_886:g.104380G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682130.1:n.2360G>A | ||
| ENST00000682291.1:c.2255G>A | ENSP00000507093.1:p.Arg752Gln | |
| ENST00000682298.1:n.2628G>A | ||
| ENST00000682331.1:c.2072G>A | ENSP00000508329.1:p.Arg691Gln | |
| ENST00000682378.1:n.2543G>A | ||
| ENST00000682381.1:n.2543G>A | ||
| ENST00000682522.1:n.2144G>A | ||
| ENST00000682559.1:c.*1708G>A | ENSP00000507271.1:n.*1708G>A | |
| ENST00000683069.1:n.2455G>A | ||
| ENST00000683198.1:c.2279G>A | ENSP00000507889.1:p.Arg760Gln | |
| ENST00000683225.1:c.2060G>A | ENSP00000506977.1:p.Arg687Gln | |
| ENST00000683267.1:c.*1533G>A | ENSP00000508356.1:n.*1533G>A | |
| ENST00000683342.1:c.2255G>A | ENSP00000508301.1:p.Arg752Gln | |
| ENST00000683780.1:n.3101G>A | ||
| ENST00000684146.1:n.2543G>A | ||
| ENST00000684182.1:c.2060G>A | ENSP00000508177.1:p.Arg687Gln | |
| ENST00000684287.1:n.1521G>A | ||
| ENST00000684340.1:n.2543G>A | ||
| ENST00000684598.1:c.2255G>A | ENSP00000507785.1:p.Arg752Gln | |
| ENST00000684638.1:c.*1533G>A | ENSP00000507609.1:n.*1533G>A | |
| ENST00000684639.1:c.2135G>A | ENSP00000507653.1:p.Arg712Gln | |
| ENST00000684713.1:c.2162G>A | ENSP00000507155.1:p.Arg721Gln | |
| ENST00000394419.9:c.2255G>A MANE Select | ENSP00000377941.4:p.Arg752Gln | |
| ENST00000679147.1:c.2279G>A | ENSP00000504355.1:p.Arg760Gln | |
| ENST00000193403.10:c.2255G>A | ENSP00000193403.6:p.Arg752Gln | |
| ENST00000376839.7:c.2060G>A | ENSP00000366035.3:p.Arg687Gln | |
| ENST00000394419.8:c.2255G>A | ENSP00000377941.4:p.Arg752Gln | |
| ENST00000438964.6:c.2255G>A | ENSP00000414272.2:p.Arg752Gln | |
| ENST00000538545.6:c.2255G>A | ENSP00000439828.2:p.Arg752Gln | |
| ENST00000544964.6:c.842G>A | ENSP00000444422.2:p.Arg281Gln | |
| ENST00000553290.1:c.573G>A | ||
| ENST00000555075.5:c.412G>A | ||
| ENST00000556083.1:n.3709G>A | ||
| ENST00000556432.1:n.435G>A | ||
| NM_001102.3:c.2255G>A | NP_001093.1:p.Arg752Gln | |
| NM_001130004.1:c.2255G>A , LRG_886t1:c.2255G>A | NP_001123476.1:p.Arg752Gln | |
| NM_001130005.1:c.2255G>A | NP_001123477.1:p.Arg752Gln | |
| XM_011537265.1:c.2366G>A | XP_011535567.1:p.Arg789Gln | |
| XM_011537266.1:c.2366G>A | XP_011535568.1:p.Arg789Gln | |
| XM_011537267.1:c.2342G>A | XP_011535569.1:p.Arg781Gln | |
| XM_011537268.1:c.2342G>A | XP_011535570.1:p.Arg781Gln | |
| XM_011537269.1:c.2279G>A | XP_011535571.1:p.Arg760Gln | |
| XM_011537270.1:c.2216G>A | XP_011535572.1:p.Arg739Gln | |
| XM_011537271.1:c.2192G>A | XP_011535573.1:p.Arg731Gln | |
| XM_011537265.2:c.2366G>A | XP_011535567.1:p.Arg789Gln | |
| XM_011537266.3:c.2366G>A | XP_011535568.1:p.Arg789Gln | |
| XM_011537267.3:c.2342G>A | XP_011535569.1:p.Arg781Gln | |
| XM_011537268.3:c.2342G>A | XP_011535570.1:p.Arg781Gln | |
| XM_017021720.1:c.2366G>A | XP_016877209.1:p.Arg789Gln | |
| XM_017021721.2:c.2342G>A | XP_016877210.1:p.Arg781Gln | |
| XM_017021722.2:c.2279G>A | XP_016877211.1:p.Arg760Gln | |
| XM_017021723.2:c.2255G>A | XP_016877212.1:p.Arg752Gln | |
| XM_017021725.1:c.2216G>A | XP_016877214.1:p.Arg739Gln | |
| XM_017021726.2:c.2192G>A | XP_016877215.1:p.Arg731Gln | |
| XM_017021727.2:c.2279G>A | XP_016877216.1:p.Arg760Gln | |
| XM_017021728.2:c.2192G>A | XP_016877217.1:p.Arg731Gln | |
| NM_001102.4:c.2255G>A | NP_001093.1:p.Arg752Gln | |
| NM_001130005.2:c.2255G>A | NP_001123477.1:p.Arg752Gln | |
| NM_001130004.2:c.2255G>A MANE Select | NP_001123476.1:p.Arg752Gln |