Linked Data
ClinVar Variation Id:
137073
ClinVar RCV Id:
RCV001831916
dbSNP Id:
rs41298896
ExAC:
10:14968855 G / C
gnomAD v2:
10-14968855-G-C
gnomAD v3:
10-14926856-G-C
gnomAD v4:
10-14926856-G-C
ERepo:
CA290573/MONDO:0011225/116
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.14926856G>C , CM000672.2:g.14926856G>C | GRCh38 |
| NC_000010.10:g.14968855G>C , CM000672.1:g.14968855G>C | GRCh37 |
| NC_000010.9:g.15008861G>C | NCBI36 |
| NG_007276.1:g.32240C>G , LRG_54:g.32240C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378241.6:c.*1006C>G | ENSP00000367487.3:n.*1006C>G | |
| ENST00000456122.2:c.*1145C>G | ENSP00000413180.3:n.*1145C>G | |
| ENST00000489161.2:c.*695+1160C>G | ENSP00000513000.2:n.*695+1160C>G | |
| ENST00000492201.6:c.959C>G | ENSP00000512999.1:p.Ser320Cys | |
| ENST00000697047.1:c.959C>G | ENSP00000513066.1:p.Ser320Cys | |
| ENST00000697070.1:c.959C>G | ENSP00000513085.1:p.Ser320Cys | |
| ENST00000697071.1:c.*879C>G | ENSP00000513086.1:n.*879C>G | |
| ENST00000697072.1:c.917+1160C>G | ENSP00000513087.1:n.917+1160C>G | |
| ENST00000697073.1:c.*737C>G | ENSP00000513088.2:n.*737C>G | |
| ENST00000697074.1:c.*737C>G | ENSP00000513089.2:n.*737C>G | |
| ENST00000697075.1:c.959C>G | ENSP00000513090.1:p.Ser320Cys | |
| ENST00000697076.1:c.917+1160C>G | ENSP00000513091.1:n.917+1160C>G | |
| ENST00000697077.1:c.*670C>G | ENSP00000513092.1:n.*670C>G | |
| ENST00000697078.1:c.*666C>G | ENSP00000513093.1:n.*666C>G | |
| ENST00000697079.1:n.663C>G | ||
| ENST00000697080.1:c.*823C>G | ENSP00000513094.1:n.*823C>G | |
| ENST00000697081.1:c.*576C>G | ENSP00000513095.1:n.*576C>G | |
| ENST00000697082.1:c.*1001+1160C>G | ENSP00000513096.1:n.*1001+1160C>G | |
| ENST00000697083.1:c.*777+1160C>G | ENSP00000513097.1:n.*777+1160C>G | |
| ENST00000697084.1:c.959C>G | ENSP00000513098.1:p.Ser320Cys | |
| ENST00000697085.1:c.*726C>G | ENSP00000513099.1:n.*726C>G | |
| ENST00000697086.1:n.3396C>G | ||
| ENST00000697087.1:c.*879C>G | ENSP00000513100.1:n.*879C>G | |
| ENST00000697088.1:c.*576C>G | ENSP00000513101.1:n.*576C>G | |
| ENST00000697089.1:c.*879C>G | ENSP00000513102.1:n.*879C>G | |
| ENST00000378278.7:c.959C>G MANE Select | ENSP00000367527.2:p.Ser320Cys | |
| ENST00000357717.6:c.614C>G | ENSP00000350349.2:p.Ser205Cys | |
| ENST00000378246.6:c.614C>G | ENSP00000367492.2:p.Ser205Cys | |
| ENST00000378249.5:c.614C>G | ENSP00000367496.1:p.Ser205Cys | |
| ENST00000378254.5:c.599C>G | ENSP00000367502.1:p.Ser200Cys | |
| ENST00000378255.5:c.599C>G | ENSP00000367503.1:p.Ser200Cys | |
| ENST00000378258.5:c.599C>G | ENSP00000367506.1:p.Ser200Cys | |
| ENST00000378278.6:c.959C>G | ENSP00000367527.2:p.Ser320Cys | |
| ENST00000378289.8:c.959C>G | ENSP00000367538.4:p.Ser320Cys | |
| ENST00000396817.6:c.599C>G | ENSP00000380030.2:p.Ser200Cys | |
| ENST00000489161.1:n.47+1160C>G | ||
| ENST00000492201.5:n.109C>G | ||
| NM_001033855.2:c.959C>G | NP_001029027.1:p.Ser320Cys | |
| NM_001033857.2:c.599C>G | NP_001029029.1:p.Ser200Cys | |
| NM_001033858.2:c.599C>G | NP_001029030.1:p.Ser200Cys | |
| NM_001289076.1:c.614C>G | NP_001276005.1:p.Ser205Cys | |
| NM_001289077.1:c.599C>G | NP_001276006.1:p.Ser200Cys | |
| NM_001289078.1:c.614C>G | NP_001276007.1:p.Ser205Cys | |
| NM_001289079.1:c.599C>G | NP_001276008.1:p.Ser200Cys | |
| NM_022487.3:c.614C>G | NP_071932.2:p.Ser205Cys | |
| NR_110297.1:n.1593C>G | ||
| XM_006717491.2:c.614C>G | XP_006717554.1:p.Ser205Cys | |
| XM_011519616.1:c.614C>G | XP_011517918.1:p.Ser205Cys | |
| XM_011519617.1:c.614C>G | XP_011517919.1:p.Ser205Cys | |
| XM_011519618.1:c.614C>G | XP_011517920.1:p.Ser205Cys | |
| XM_011519619.1:c.599C>G | XP_011517921.1:p.Ser200Cys | |
| XM_011519620.1:c.959C>G | XP_011517922.1:p.Ser320Cys | |
| XM_011519621.1:c.917+1160C>G | XP_011517923.1:n.917+1160C>G | |
| XR_242702.2:n.1056C>G | ||
| XR_930514.1:n.1014+1160C>G | ||
| XR_930515.1:n.1014+1160C>G | ||
| NM_001350965.1:c.959C>G | NP_001337894.1:p.Ser320Cys | |
| NM_001350966.1:c.614C>G | NP_001337895.1:p.Ser205Cys | |
| NM_001350967.1:c.599C>G | NP_001337896.1:p.Ser200Cys | |
| NR_146960.1:n.1339+1160C>G | ||
| NR_146961.1:n.1410C>G | ||
| NR_146962.1:n.1381C>G | ||
| XM_006717491.4:c.614C>G | XP_006717554.1:p.Ser205Cys | |
| XM_011519620.3:c.959C>G | XP_011517922.1:p.Ser320Cys | |
| XM_011519621.2:c.917+1160C>G | XP_011517923.1:n.917+1160C>G | |
| XM_017016557.1:c.614C>G | XP_016872046.1:p.Ser205Cys | |
| XM_017016558.1:c.599C>G | XP_016872047.1:p.Ser200Cys | |
| XM_024448134.1:c.599C>G | XP_024303902.1:p.Ser200Cys | |
| XM_024448135.1:c.614C>G | XP_024303903.1:p.Ser205Cys | |
| XR_001747185.2:n.1261+1160C>G | ||
| XR_001747187.1:n.939C>G | ||
| XR_930515.2:n.1261+1160C>G | ||
| NM_001033855.3:c.959C>G MANE Select | NP_001029027.1:p.Ser320Cys | |
| NM_001033857.3:c.599C>G | NP_001029029.1:p.Ser200Cys | |
| NM_001033858.3:c.599C>G | NP_001029030.1:p.Ser200Cys | |
| NM_001289076.2:c.614C>G | NP_001276005.1:p.Ser205Cys | |
| NM_001289077.2:c.599C>G | NP_001276006.1:p.Ser200Cys | |
| NM_001289078.2:c.614C>G | NP_001276007.1:p.Ser205Cys | |
| NM_001289079.2:c.599C>G | NP_001276008.1:p.Ser200Cys | |
| NM_001350965.2:c.959C>G | NP_001337894.1:p.Ser320Cys | |
| NM_001350966.2:c.614C>G | NP_001337895.1:p.Ser205Cys | |
| NM_001350967.2:c.599C>G | NP_001337896.1:p.Ser200Cys | |
| NM_022487.4:c.614C>G | NP_071932.2:p.Ser205Cys | |
| NR_110297.2:n.1257C>G | ||
| NR_146961.2:n.1074C>G |