Linked Data
ClinVar Variation Id:
1036563
ClinVar RCV Id:
RCV001339594
dbSNP Id:
rs372102190
ExAC:
11:6638963 A / G
gnomAD v2:
11-6638963-A-G
gnomAD v3:
11-6617732-A-G
gnomAD v4:
11-6617732-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617732A>G , CM000673.2:g.6617732A>G | GRCh38 |
| NC_000011.9:g.6638963A>G , CM000673.1:g.6638963A>G | GRCh37 |
| NC_000011.8:g.6595539A>G | NCBI36 |
| NG_008653.1:g.6730T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.160T>C | ENSP00000507321.1:p.Ser54Pro | |
| ENST00000299427.12:c.274T>C MANE Select | ENSP00000299427.6:p.Ser92Pro | |
| ENST00000428886.7:n.362T>C | ||
| ENST00000436873.7:c.78T>C | ||
| ENST00000524788.2:n.1286T>C | ||
| ENST00000524903.2:n.1402T>C | ||
| ENST00000528571.6:c.*14T>C | ENSP00000434647.1:n.*14T>C | |
| ENST00000530040.2:n.303T>C | ||
| ENST00000533371.6:c.-456T>C | ENSP00000437066.1:n.-456T>C | |
| ENST00000534644.6:n.275T>C | ||
| ENST00000642892.1:c.-403T>C | ENSP00000494165.1:n.-403T>C | |
| ENST00000643439.1:c.*14T>C | ENSP00000495849.1:n.*14T>C | |
| ENST00000643479.1:n.303T>C | ||
| ENST00000643516.1:c.161T>C | ||
| ENST00000644151.1:n.1566T>C | ||
| ENST00000644218.1:c.274T>C | ENSP00000493574.1:p.Ser92Pro | |
| ENST00000644683.1:c.274T>C | ENSP00000494085.1:p.Ser92Pro | |
| ENST00000644810.1:c.230-579T>C | ENSP00000495895.1:n.230-579T>C | |
| ENST00000644831.1:n.303T>C | ||
| ENST00000644933.1:c.-456T>C | ENSP00000496133.1:n.-456T>C | |
| ENST00000645020.1:n.1302T>C | ||
| ENST00000645285.1:c.-456T>C | ENSP00000495058.1:n.-456T>C | |
| ENST00000645331.1:n.296T>C | ||
| ENST00000645620.1:c.-398T>C | ENSP00000493657.1:n.-398T>C | |
| ENST00000646777.1:n.303T>C | ||
| ENST00000647016.1:n.607T>C | ||
| ENST00000647152.1:c.-456T>C | ENSP00000495893.1:n.-456T>C | |
| ENST00000647209.1:c.*143T>C | ENSP00000495558.1:n.*143T>C | |
| ENST00000647346.1:n.1294T>C | ||
| ENST00000299427.10:c.274T>C | ENSP00000299427.6:p.Ser92Pro | |
| ENST00000428886.6:n.296T>C | ||
| ENST00000436873.6:c.274T>C | ENSP00000398136.2:p.Ser92Pro | |
| ENST00000528571.5:c.*14T>C | ENSP00000434647.1:n.*14T>C | |
| ENST00000530040.1:n.386T>C | ||
| ENST00000533371.5:c.-456T>C | ENSP00000437066.1:n.-456T>C | |
| ENST00000534644.5:n.259T>C | ||
| ENST00000611494.4:c.274T>C | ENSP00000484546.1:p.Ser92Pro | |
| NM_000391.3:c.274T>C | NP_000382.3:p.Ser92Pro | |
| NM_000391.4:c.274T>C MANE Select | NP_000382.3:p.Ser92Pro |