Linked Data
dbSNP Id:
rs555048430
ExAC:
11:6635864 A / G
gnomAD v2:
11-6635864-A-G
gnomAD v3:
11-6614633-A-G
gnomAD v4:
11-6614633-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614633A>G , CM000673.2:g.6614633A>G | GRCh38 |
| NC_000011.9:g.6635864A>G , CM000673.1:g.6635864A>G | GRCh37 |
| NC_000011.8:g.6592440A>G | NCBI36 |
| NG_008653.1:g.9829T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1491T>C | ENSP00000507321.1:p.Gly497= | |
| ENST00000299427.12:c.1605T>C MANE Select | ENSP00000299427.6:p.Gly535= | |
| ENST00000524611.2:n.644T>C | ||
| ENST00000524924.2:n.725T>C | ||
| ENST00000533371.6:c.876T>C | ENSP00000437066.1:p.Gly292= | |
| ENST00000642892.1:c.876T>C | ENSP00000494165.1:p.Gly292= | |
| ENST00000643342.1:c.678T>C | ||
| ENST00000643439.1:c.*1345T>C | ENSP00000495849.1:n.*1345T>C | |
| ENST00000643479.1:n.1791T>C | ||
| ENST00000643516.1:c.1114T>C | ||
| ENST00000644218.1:c.1416T>C | ENSP00000493574.1:p.Gly472= | |
| ENST00000644683.1:c.*1058T>C | ENSP00000494085.1:n.*1058T>C | |
| ENST00000644810.1:c.1326T>C | ENSP00000495895.1:p.Gly442= | |
| ENST00000644831.1:n.1781T>C | ||
| ENST00000644933.1:c.*471T>C | ENSP00000496133.1:n.*471T>C | |
| ENST00000645285.1:c.*471T>C | ENSP00000495058.1:n.*471T>C | |
| ENST00000645331.1:n.2810T>C | ||
| ENST00000645620.1:c.876T>C | ENSP00000493657.1:p.Gly292= | |
| ENST00000646691.1:n.1492T>C | ||
| ENST00000646777.1:n.1938T>C | ||
| ENST00000647016.1:n.2085T>C | ||
| ENST00000647152.1:c.876T>C | ENSP00000495893.1:p.Gly292= | |
| ENST00000647209.1:c.*1474T>C | ENSP00000495558.1:n.*1474T>C | |
| ENST00000647346.1:n.2625T>C | ||
| ENST00000299427.10:c.1605T>C | ENSP00000299427.6:p.Gly535= | |
| ENST00000533371.5:c.876T>C | ENSP00000437066.1:p.Gly292= | |
| ENST00000611494.4:c.1605T>C | ENSP00000484546.1:p.Gly535= | |
| NM_000391.3:c.1605T>C | NP_000382.3:p.Gly535= | |
| NM_000391.4:c.1605T>C MANE Select | NP_000382.3:p.Gly535= |