Linked Data
ClinVar Variation Id:
161741
ClinVar RCV Id:
RCV000149277
dbSNP Id:
rs193921019
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.70598652C>T , CM000671.2:g.70598652C>T | GRCh38 |
| NC_000009.11:g.73213568C>T , CM000671.1:g.73213568C>T | GRCh37 |
| NC_000009.10:g.72403388C>T | NCBI36 |
| NG_047197.1:g.853273G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707140.1:c.2713G>A (TRPM3) | ENSP00000516762.1:p.Gly905Arg | |
| ENST00000704565.1:c.2790G>A (TRPM3) | ENSP00000515942.1:n.2790G>A | |
| ENST00000704566.1:c.2443G>A (TRPM3) | ENSP00000515943.1:p.Gly815Arg | |
| ENST00000704567.1:c.2320G>A (TRPM3) | ENSP00000515944.1:p.Gly774Arg | |
| ENST00000704568.1:c.2902G>A (TRPM3) | ENSP00000515945.1:p.Gly968Arg | |
| ENST00000704571.1:n.2731G>A (TRPM3) | ||
| ENST00000704573.1:c.2320G>A (TRPM3) | ENSP00000515949.1:p.Gly774Arg | |
| ENST00000704574.1:c.*1775G>A (TRPM3) | ENSP00000515950.1:n.*1775G>A | |
| ENST00000377110.9:c.2779G>A (TRPM3) | ENSP00000366314.4:p.Gly927Arg | |
| ENST00000377111.8:c.2779G>A (TRPM3) | ENSP00000366315.4:p.Gly927Arg | |
| ENST00000677594.1:c.2356G>A (TRPM3) | ENSP00000504011.1:p.Gly786Arg | |
| ENST00000677713.2:c.2815G>A (TRPM3) MANE Select | ENSP00000503830.2:p.Gly939Arg | |
| ENST00000357533.6:c.2791G>A (TRPM3) | ENSP00000350140.2:p.Gly931Arg | |
| ENST00000358082.7:c.2365G>A (TRPM3) | ENSP00000350791.3:p.Gly789Arg | |
| ENST00000360823.6:c.2365G>A (TRPM3) | ENSP00000354066.2:p.Gly789Arg | |
| ENST00000377105.5:c.2356G>A (TRPM3) | ENSP00000366309.1:p.Gly786Arg | |
| ENST00000377110.7:c.2779G>A (TRPM3) | ENSP00000366314.2:p.Gly927Arg | |
| ENST00000377111.6:c.2779G>A (TRPM3) | ENSP00000366315.2:p.Gly927Arg | |
| ENST00000396280.9:c.2326G>A (TRPM3) | ENSP00000379576.5:p.Gly776Arg | |
| ENST00000396285.5:c.2320G>A (TRPM3) | ENSP00000379581.1:p.Gly774Arg | |
| ENST00000396292.8:c.2395G>A (TRPM3) | ENSP00000379587.4:p.Gly799Arg | |
| ENST00000408909.6:c.2356G>A (TRPM3) | ENSP00000386127.2:p.Gly786Arg | |
| NM_001007471.2:c.2779G>A (TRPM3) | NP_001007472.2:p.Gly927Arg | |
| NM_020952.4:c.2320G>A (TRPM3) | NP_066003.3:p.Gly774Arg | |
| NM_024971.5:c.2356G>A (TRPM3) | NP_079247.5:p.Gly786Arg | |
| NM_206944.3:c.2290G>A (TRPM3) | NP_996827.3:p.Gly764Arg | |
| NM_206945.3:c.2326G>A (TRPM3) | NP_996828.3:p.Gly776Arg | |
| NM_206946.3:c.2395G>A (TRPM3) | NP_996829.3:p.Gly799Arg | |
| NM_206947.3:c.2365G>A (TRPM3) | NP_996830.3:p.Gly789Arg | |
| XM_011519035.1:c.2896G>A (TRPM3) | XP_011517337.1:p.Gly966Arg | |
| XM_011519036.1:c.2890G>A (TRPM3) | XP_011517338.1:p.Gly964Arg | |
| XM_011519037.1:c.2860G>A (TRPM3) | XP_011517339.1:p.Gly954Arg | |
| XM_011519038.1:c.2854G>A (TRPM3) | XP_011517340.1:p.Gly952Arg | |
| XM_011519039.1:c.2824G>A (TRPM3) | XP_011517341.1:p.Gly942Arg | |
| XM_011519040.1:c.2821G>A (TRPM3) | XP_011517342.1:p.Gly941Arg | |
| XM_011519041.1:c.2815G>A (TRPM3) | XP_011517343.1:p.Gly939Arg | |
| XM_011519042.1:c.2791G>A (TRPM3) | XP_011517344.1:p.Gly931Arg | |
| XM_011519043.1:c.2785G>A (TRPM3) | XP_011517345.1:p.Gly929Arg | |
| XM_011519044.1:c.2785G>A (TRPM3) | XP_011517346.1:p.Gly929Arg | |
| XM_011519045.1:c.2755G>A (TRPM3) | XP_011517347.1:p.Gly919Arg | |
| XM_011519046.1:c.2749G>A (TRPM3) | XP_011517348.1:p.Gly917Arg | |
| XM_011519047.1:c.2779G>A (TRPM3) | XP_011517349.1:p.Gly927Arg | |
| XR_929914.1:n.389-3355C>T (KLF9-DT) | ||
| NM_001007471.3:c.2779G>A (TRPM3) | NP_001007472.2:p.Gly927Arg | |
| NM_001366141.1:c.2785G>A (TRPM3) | NP_001353070.1:p.Gly929Arg | |
| NM_001366142.1:c.2821G>A (TRPM3) | NP_001353071.1:p.Gly941Arg | |
| NM_001366143.1:c.2785G>A (TRPM3) | NP_001353072.1:p.Gly929Arg | |
| NM_001366145.1:c.2815G>A (TRPM3) | NP_001353074.1:p.Gly939Arg | |
| NM_001366146.1:c.2815G>A (TRPM3) | NP_001353075.1:p.Gly939Arg | |
| NM_001366147.1:c.2890G>A (TRPM3) | NP_001353076.1:p.Gly964Arg | |
| NM_001366148.1:c.2860G>A (TRPM3) | NP_001353077.1:p.Gly954Arg | |
| NM_001366149.1:c.2785G>A (TRPM3) | NP_001353078.1:p.Gly929Arg | |
| NM_001366150.1:c.2749G>A (TRPM3) | NP_001353079.1:p.Gly917Arg | |
| NM_001366151.1:c.2779G>A (TRPM3) | NP_001353080.1:p.Gly927Arg | |
| NM_001366152.1:c.2890G>A (TRPM3) | NP_001353081.1:p.Gly964Arg | |
| NM_001366154.1:c.2356G>A (TRPM3) | NP_001353083.1:p.Gly786Arg | |
| NM_020952.5:c.2320G>A (TRPM3) | NP_066003.3:p.Gly774Arg | |
| NM_024971.6:c.2356G>A (TRPM3) | NP_079247.5:p.Gly786Arg | |
| NM_206944.4:c.2290G>A (TRPM3) | NP_996827.3:p.Gly764Arg | |
| NM_206945.4:c.2326G>A (TRPM3) | NP_996828.3:p.Gly776Arg | |
| NM_206946.4:c.2395G>A (TRPM3) | NP_996829.3:p.Gly799Arg | |
| NM_206947.4:c.2365G>A (TRPM3) | NP_996830.3:p.Gly789Arg | |
| XM_011519037.3:c.2860G>A (TRPM3) | XP_011517339.1:p.Gly954Arg | |
| XM_011519038.3:c.2854G>A (TRPM3) | XP_011517340.1:p.Gly952Arg | |
| XM_011519039.3:c.2824G>A (TRPM3) | XP_011517341.1:p.Gly942Arg | |
| XM_011519040.3:c.2821G>A (TRPM3) | XP_011517342.1:p.Gly941Arg | |
| XM_011519042.3:c.2791G>A (TRPM3) | XP_011517344.1:p.Gly931Arg | |
| XM_011519045.2:c.2755G>A (TRPM3) | XP_011517347.1:p.Gly919Arg | |
| XM_011519046.3:c.2749G>A (TRPM3) | XP_011517348.1:p.Gly917Arg | |
| XM_017015156.1:c.1528G>A (TRPM3) | XP_016870645.1:p.Gly510Arg | |
| XM_024447681.1:c.1498G>A (TRPM3) | XP_024303449.1:p.Gly500Arg | |
| XM_024447682.1:c.1492G>A (TRPM3) | XP_024303450.1:p.Gly498Arg | |
| XM_024447683.1:c.1462G>A (TRPM3) | XP_024303451.1:p.Gly488Arg | |
| XM_024447684.1:c.1528G>A (TRPM3) | XP_024303452.1:p.Gly510Arg | |
| XM_024447685.1:c.1498G>A (TRPM3) | XP_024303453.1:p.Gly500Arg | |
| XM_024447686.1:c.1492G>A (TRPM3) | XP_024303454.1:p.Gly498Arg | |
| XR_001746712.1:n.819-3355C>T (KLF9-DT) | ||
| XR_001746713.1:n.256-3355C>T (KLF9-DT) | ||
| XR_001746714.1:n.194-3355C>T (KLF9-DT) | ||
| XR_001746715.2:n.214-3355C>T (KLF9-DT) | ||
| XR_002956886.1:n.908-3355C>T (KLF9-DT) | ||
| XR_002956887.1:n.985-3355C>T (KLF9-DT) | ||
| NM_001007471.4:c.2779G>A (TRPM3) | NP_001007472.2:p.Gly927Arg | |
| NM_001366141.2:c.2785G>A (TRPM3) | NP_001353070.1:p.Gly929Arg | |
| NM_001366142.2:c.2821G>A (TRPM3) | NP_001353071.1:p.Gly941Arg | |
| NM_001366143.2:c.2785G>A (TRPM3) | NP_001353072.1:p.Gly929Arg | |
| NM_001366145.2:c.2815G>A (TRPM3) MANE Select | NP_001353074.1:p.Gly939Arg | |
| NM_001366146.2:c.2815G>A (TRPM3) | NP_001353075.1:p.Gly939Arg | |
| NM_001366147.2:c.2890G>A (TRPM3) | NP_001353076.1:p.Gly964Arg | |
| NM_001366148.2:c.2860G>A (TRPM3) | NP_001353077.1:p.Gly954Arg | |
| NM_001366149.2:c.2785G>A (TRPM3) | NP_001353078.1:p.Gly929Arg | |
| NM_001366150.2:c.2749G>A (TRPM3) | NP_001353079.1:p.Gly917Arg | |
| NM_001366151.2:c.2779G>A (TRPM3) | NP_001353080.1:p.Gly927Arg | |
| NM_001366152.2:c.2890G>A (TRPM3) | NP_001353081.1:p.Gly964Arg | |
| NM_001366154.2:c.2356G>A (TRPM3) | NP_001353083.1:p.Gly786Arg | |
| NM_020952.6:c.2320G>A (TRPM3) | NP_066003.3:p.Gly774Arg | |
| NM_206944.5:c.2290G>A (TRPM3) | NP_996827.3:p.Gly764Arg | |
| NM_206945.5:c.2326G>A (TRPM3) | NP_996828.3:p.Gly776Arg | |
| NM_206946.5:c.2395G>A (TRPM3) | NP_996829.3:p.Gly799Arg | |
| NM_024971.7:c.2356G>A (TRPM3) | NP_079247.5:p.Gly786Arg | |
| NM_206947.5:c.2365G>A (TRPM3) | NP_996830.3:p.Gly789Arg |