Linked Data
ClinVar Variation Id:
36919
dbSNP Id:
rs376039938
ExAC:
11:118971512 C / G
gnomAD v2:
11-118971512-C-G
gnomAD v3:
11-119100802-C-G
gnomAD v4:
11-119100802-C-G
PubMed:
PMID:22742743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119100802C>G , CM000673.2:g.119100802C>G | GRCh38 |
| NC_000011.9:g.118971512C>G , CM000673.1:g.118971512C>G | GRCh37 |
| NC_000011.8:g.118476722C>G | NCBI36 |
| NG_008918.1:g.6274G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445653.6:n.500G>C | ||
| ENST00000530052.2:n.1066G>C | ||
| ENST00000682191.1:n.526G>C | ||
| ENST00000682192.1:n.526G>C | ||
| ENST00000682232.1:c.*29G>C | ENSP00000507302.1:n.*29G>C | |
| ENST00000682326.1:c.324G>C | ENSP00000508129.1:p.Met108Ile | |
| ENST00000682404.1:n.1066G>C | ||
| ENST00000682517.1:n.1066G>C | ||
| ENST00000682652.1:n.1295G>C | ||
| ENST00000682665.1:n.721G>C | ||
| ENST00000682691.1:n.721G>C | ||
| ENST00000682791.1:c.237G>C | ENSP00000507312.1:p.Met79Ile | |
| ENST00000682811.1:c.324G>C | ENSP00000508196.1:p.Met108Ile | |
| ENST00000682883.1:n.627G>C | ||
| ENST00000682946.1:c.324G>C | ENSP00000506856.1:p.Met108Ile | |
| ENST00000683143.1:c.*29G>C | ENSP00000507168.1:n.*29G>C | |
| ENST00000683373.1:n.526G>C | ||
| ENST00000683558.1:n.526G>C | ||
| ENST00000683567.1:n.551G>C | ||
| ENST00000683955.1:n.721G>C | ||
| ENST00000684142.1:c.308G>C | ENSP00000508008.1:p.Ter103Ser | |
| ENST00000684252.1:n.721G>C | ||
| ENST00000684255.1:c.*29G>C | ENSP00000507398.1:n.*29G>C | |
| ENST00000684315.1:n.1057G>C | ||
| ENST00000684345.1:c.308G>C | ENSP00000507163.1:p.Ter103Ser | |
| ENST00000684499.1:c.*429G>C | ENSP00000506800.1:n.*429G>C | |
| ENST00000684682.1:c.162-394G>C | ENSP00000507326.1:n.162-394G>C | |
| ENST00000354202.9:c.324G>C MANE Select | ENSP00000346142.4:p.Met108Ile | |
| ENST00000639704.1:c.283-52G>C | ENSP00000491336.1:n.283-52G>C | |
| ENST00000640102.1:c.187G>C | ENSP00000492027.1:p.Asp63His | |
| ENST00000640747.1:c.308G>C | ENSP00000492730.1:p.Ter103Ser | |
| ENST00000354202.8:c.324G>C | ENSP00000346142.4:p.Met108Ile | |
| ENST00000392834.7:c.*29G>C | ENSP00000376579.3:n.*29G>C | |
| ENST00000409993.6:c.324G>C | ENSP00000386597.2:p.Met108Ile | |
| ENST00000414373.5:c.*70G>C | ENSP00000402019.1:n.*70G>C | |
| ENST00000442480.1:c.174G>C | ENSP00000406591.1:p.Met58Ile | |
| ENST00000445653.5:n.410G>C | ||
| ENST00000460183.1:n.885G>C | ||
| ENST00000481084.5:n.1125+216G>C | ||
| ENST00000525456.5:n.327G>C | ||
| ENST00000530052.1:n.222G>C | ||
| ENST00000533687.1:n.115G>C | ||
| NM_001382.3:c.324G>C | NP_001373.2:p.Met108Ile | |
| XM_005271422.2:c.324G>C | XP_005271479.1:p.Met108Ile | |
| XM_011542648.1:c.3G>C | XP_011540950.1:p.Met1Ile | |
| XR_947801.1:n.760G>C | ||
| XM_005271422.3:c.324G>C | XP_005271479.1:p.Met108Ile | |
| XM_011542648.2:c.3G>C | XP_011540950.1:p.Met1Ile | |
| XM_017017293.2:c.3G>C | XP_016872782.1:p.Met1Ile | |
| XM_017017294.2:c.324G>C | XP_016872783.1:p.Met108Ile | |
| XM_017017295.1:c.-20-394G>C | XP_016872784.1:n.-20-394G>C | |
| XR_001747785.2:n.547G>C | ||
| XR_947801.2:n.547G>C | ||
| NM_001382.4:c.324G>C MANE Select | NP_001373.2:p.Met108Ile |