Linked Data
ClinVar Variation Id:
12415
dbSNP Id:
rs74315380
ExAC:
1:201333494 G / A
gnomAD v4:
1-201364366-G-A
PubMed:
PMID:12923187
PMID:14654368
PMID:15542288
PMID:15623536
PMID:15769782
PMID:15923195
PMID:16093482
PMID:17278368
PMID:17932326
PMID:18056765
PMID:18154728
PMID:18506004
PMID:18606313
PMID:20083571
PMID:20298698
PMID:20973921
PMID:21415410
PMID:21424860
PMID:21551322
PMID:22675533
PMID:23539503
PMID:24119082
PMID:24503780
PMID:27532257
PMID:27757084
PMID:28352236
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201364366G>A , CM000663.2:g.201364366G>A | GRCh38 |
| NC_000001.10:g.201333494G>A , CM000663.1:g.201333494G>A | GRCh37 |
| NC_000001.9:g.199600117G>A | NCBI36 |
| NG_007556.1:g.18312C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455702.7:c.406C>T | ENSP00000402238.3:p.Arg136Trp | |
| ENST00000367318.10:c.391C>T | ENSP00000356287.5:p.Arg131Trp | |
| ENST00000367322.6:c.388C>T | ENSP00000356291.2:p.Arg130Trp | |
| ENST00000412633.3:c.391C>T | ENSP00000408731.2:p.Arg131Trp | |
| ENST00000422165.6:c.421C>T | ENSP00000395163.2:p.Arg141Trp | |
| ENST00000438742.6:c.373C>T | ENSP00000414036.2:p.Arg125Trp | |
| ENST00000455702.6:c.406C>T | ENSP00000402238.2:p.Arg136Trp | |
| ENST00000651504.1:n.885C>T | ||
| ENST00000656932.1:c.421C>T MANE Select | ENSP00000499593.1:p.Arg141Trp | |
| ENST00000658476.1:c.391C>T | ENSP00000499741.1:p.Arg131Trp | |
| ENST00000660295.1:c.391C>T | ENSP00000499418.1:p.Arg131Trp | |
| ENST00000662159.1:c.163-2367C>T | ENSP00000499796.1:n.163-2367C>T | |
| ENST00000663843.1:c.*321C>T | ENSP00000499590.1:n.*321C>T | |
| ENST00000666449.1:c.391C>T | ENSP00000499667.1:p.Arg131Trp | |
| ENST00000236918.11:c.421C>T | ENSP00000236918.8:p.Arg141Trp | |
| ENST00000360372.8:c.301C>T | ENSP00000353535.5:p.Arg101Trp | |
| ENST00000367315.6:c.397C>T | ENSP00000356284.3:p.Arg133Trp | |
| ENST00000367317.8:c.376C>T | ENSP00000356286.5:p.Arg126Trp | |
| ENST00000367318.9:c.391C>T | ENSP00000356287.5:p.Arg131Trp | |
| ENST00000367320.6:c.301C>T | ENSP00000356289.2:p.Arg101Trp | |
| ENST00000367322.5:c.391C>T | ENSP00000356291.1:p.Arg131Trp | |
| ENST00000421663.6:c.214C>T | ENSP00000404134.3:p.Arg72Trp | |
| ENST00000438742.5:c.376C>T | ENSP00000414036.1:p.Arg126Trp | |
| ENST00000455702.5:c.421C>T | ENSP00000402238.1:p.Arg141Trp | |
| ENST00000458432.6:c.214C>T | ENSP00000387874.3:p.Arg72Trp | |
| ENST00000466570.5:n.647C>T | ||
| ENST00000491504.5:n.1630C>T | ||
| ENST00000503459.1:n.260C>T | ||
| ENST00000509001.5:c.391C>T | ENSP00000422031.1:p.Arg131Trp | |
| ENST00000515042.5:n.317C>T | ||
| NM_000364.3:c.421C>T | NP_000355.2:p.Arg141Trp | |
| NM_001001430.2:c.391C>T | NP_001001430.1:p.Arg131Trp | |
| NM_001001431.2:c.391C>T | NP_001001431.1:p.Arg131Trp | |
| NM_001001432.2:c.376C>T | NP_001001432.1:p.Arg126Trp | |
| NM_001276345.1:c.421C>T | NP_001263274.1:p.Arg141Trp | |
| NM_001276346.1:c.301C>T | NP_001263275.1:p.Arg101Trp | |
| NM_001276347.1:c.391C>T | NP_001263276.1:p.Arg131Trp | |
| XM_006711508.2:c.391C>T | XP_006711571.1:p.Arg131Trp | |
| XM_006711509.2:c.388C>T | XP_006711572.1:p.Arg130Trp | |
| XM_011509938.1:c.421C>T | XP_011508240.1:p.Arg141Trp | |
| XM_011509939.1:c.418C>T | XP_011508241.1:p.Arg140Trp | |
| XM_011509940.1:c.421C>T | XP_011508242.1:p.Arg141Trp | |
| XM_011509941.1:c.418C>T | XP_011508243.1:p.Arg140Trp | |
| XM_011509942.1:c.376C>T | XP_011508244.1:p.Arg126Trp | |
| XM_011509943.1:c.376C>T | XP_011508245.1:p.Arg126Trp | |
| XM_011509944.1:c.373C>T | XP_011508246.1:p.Arg125Trp | |
| XM_011509945.1:c.421C>T | XP_011508247.1:p.Arg141Trp | |
| XM_011509946.1:c.214C>T | XP_011508248.1:p.Arg72Trp | |
| XM_006711508.3:c.391C>T | XP_006711571.1:p.Arg131Trp | |
| XM_006711509.3:c.388C>T | XP_006711572.1:p.Arg130Trp | |
| XM_011509938.2:c.421C>T | XP_011508240.1:p.Arg141Trp | |
| XM_011509940.2:c.421C>T | XP_011508242.1:p.Arg141Trp | |
| XM_011509941.2:c.418C>T | XP_011508243.1:p.Arg140Trp | |
| XM_011509942.2:c.376C>T | XP_011508244.1:p.Arg126Trp | |
| XM_011509943.2:c.376C>T | XP_011508245.1:p.Arg126Trp | |
| XM_011509944.2:c.373C>T | XP_011508246.1:p.Arg125Trp | |
| XM_017002216.2:c.391C>T | XP_016857705.1:p.Arg131Trp | |
| XM_017002217.1:c.391C>T | XP_016857706.1:p.Arg131Trp | |
| XM_024449450.1:c.421C>T | XP_024305218.1:p.Arg141Trp | |
| XM_024449454.1:c.388C>T | XP_024305222.1:p.Arg130Trp | |
| XM_024449455.1:c.391C>T | XP_024305223.1:p.Arg131Trp | |
| NM_000364.4:c.421C>T | NP_000355.2:p.Arg141Trp | |
| NM_001001430.3:c.391C>T | NP_001001430.1:p.Arg131Trp | |
| NM_001001431.3:c.391C>T | NP_001001431.1:p.Arg131Trp | |
| NM_001001432.3:c.376C>T | NP_001001432.1:p.Arg126Trp | |
| NM_001276345.2:c.421C>T MANE Select | NP_001263274.1:p.Arg141Trp | |
| NM_001276346.2:c.301C>T | NP_001263275.1:p.Arg101Trp | |
| NM_001276347.2:c.391C>T | NP_001263276.1:p.Arg131Trp |