Linked Data
ClinVar Variation Id:
42032
dbSNP Id:
rs387907349
gnomAD v4:
14-68880030-G-A
PubMed:
PMID:23434115
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68880030G>A , CM000676.2:g.68880030G>A | GRCh38 |
| NC_000014.8:g.69346747G>A , CM000676.1:g.69346747G>A | GRCh37 |
| NC_000014.7:g.68416500G>A | NCBI36 |
| NG_029480.1:g.104337C>T , LRG_886:g.104337C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682130.1:n.2317C>T | ||
| ENST00000682291.1:c.2212C>T | ENSP00000507093.1:p.Arg738Trp | |
| ENST00000682298.1:n.2585C>T | ||
| ENST00000682331.1:c.2029C>T | ENSP00000508329.1:p.Arg677Trp | |
| ENST00000682378.1:n.2500C>T | ||
| ENST00000682381.1:n.2500C>T | ||
| ENST00000682522.1:n.2101C>T | ||
| ENST00000682559.1:c.*1665C>T | ENSP00000507271.1:n.*1665C>T | |
| ENST00000683069.1:n.2412C>T | ||
| ENST00000683198.1:c.2236C>T | ENSP00000507889.1:p.Arg746Trp | |
| ENST00000683225.1:c.2017C>T | ENSP00000506977.1:p.Arg673Trp | |
| ENST00000683267.1:c.*1490C>T | ENSP00000508356.1:n.*1490C>T | |
| ENST00000683342.1:c.2212C>T | ENSP00000508301.1:p.Arg738Trp | |
| ENST00000683780.1:n.3058C>T | ||
| ENST00000684146.1:n.2500C>T | ||
| ENST00000684182.1:c.2017C>T | ENSP00000508177.1:p.Arg673Trp | |
| ENST00000684287.1:n.1478C>T | ||
| ENST00000684340.1:n.2500C>T | ||
| ENST00000684598.1:c.2212C>T | ENSP00000507785.1:p.Arg738Trp | |
| ENST00000684638.1:c.*1490C>T | ENSP00000507609.1:n.*1490C>T | |
| ENST00000684639.1:c.2092C>T | ENSP00000507653.1:p.Arg698Trp | |
| ENST00000684713.1:c.2119C>T | ENSP00000507155.1:p.Arg707Trp | |
| ENST00000394419.9:c.2212C>T MANE Select | ENSP00000377941.4:p.Arg738Trp | |
| ENST00000679147.1:c.2236C>T | ENSP00000504355.1:p.Arg746Trp | |
| ENST00000193403.10:c.2212C>T | ENSP00000193403.6:p.Arg738Trp | |
| ENST00000376839.7:c.2017C>T | ENSP00000366035.3:p.Arg673Trp | |
| ENST00000394419.8:c.2212C>T | ENSP00000377941.4:p.Arg738Trp | |
| ENST00000438964.6:c.2212C>T | ENSP00000414272.2:p.Arg738Trp | |
| ENST00000538545.6:c.2212C>T | ENSP00000439828.2:p.Arg738Trp | |
| ENST00000544964.6:c.799C>T | ENSP00000444422.2:p.Arg267Trp | |
| ENST00000553290.1:c.530C>T | ||
| ENST00000555075.5:c.369C>T | ||
| ENST00000556083.1:n.3666C>T | ||
| ENST00000556432.1:n.392C>T | ||
| NM_001102.3:c.2212C>T | NP_001093.1:p.Arg738Trp | |
| NM_001130004.1:c.2212C>T , LRG_886t1:c.2212C>T | NP_001123476.1:p.Arg738Trp | |
| NM_001130005.1:c.2212C>T | NP_001123477.1:p.Arg738Trp | |
| XM_011537265.1:c.2323C>T | XP_011535567.1:p.Arg775Trp | |
| XM_011537266.1:c.2323C>T | XP_011535568.1:p.Arg775Trp | |
| XM_011537267.1:c.2299C>T | XP_011535569.1:p.Arg767Trp | |
| XM_011537268.1:c.2299C>T | XP_011535570.1:p.Arg767Trp | |
| XM_011537269.1:c.2236C>T | XP_011535571.1:p.Arg746Trp | |
| XM_011537270.1:c.2173C>T | XP_011535572.1:p.Arg725Trp | |
| XM_011537271.1:c.2149C>T | XP_011535573.1:p.Arg717Trp | |
| XM_011537265.2:c.2323C>T | XP_011535567.1:p.Arg775Trp | |
| XM_011537266.3:c.2323C>T | XP_011535568.1:p.Arg775Trp | |
| XM_011537267.3:c.2299C>T | XP_011535569.1:p.Arg767Trp | |
| XM_011537268.3:c.2299C>T | XP_011535570.1:p.Arg767Trp | |
| XM_017021720.1:c.2323C>T | XP_016877209.1:p.Arg775Trp | |
| XM_017021721.2:c.2299C>T | XP_016877210.1:p.Arg767Trp | |
| XM_017021722.2:c.2236C>T | XP_016877211.1:p.Arg746Trp | |
| XM_017021723.2:c.2212C>T | XP_016877212.1:p.Arg738Trp | |
| XM_017021725.1:c.2173C>T | XP_016877214.1:p.Arg725Trp | |
| XM_017021726.2:c.2149C>T | XP_016877215.1:p.Arg717Trp | |
| XM_017021727.2:c.2236C>T | XP_016877216.1:p.Arg746Trp | |
| XM_017021728.2:c.2149C>T | XP_016877217.1:p.Arg717Trp | |
| NM_001102.4:c.2212C>T | NP_001093.1:p.Arg738Trp | |
| NM_001130005.2:c.2212C>T | NP_001123477.1:p.Arg738Trp | |
| NM_001130004.2:c.2212C>T MANE Select | NP_001123476.1:p.Arg738Trp |