Linked Data
ClinVar Variation Id:
523039
dbSNP Id:
rs1471156821
gnomAD v2:
11-6636734-T-C
gnomAD v4:
11-6615503-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6615503T>C , CM000673.2:g.6615503T>C | GRCh38 |
| NC_000011.9:g.6636734T>C , CM000673.1:g.6636734T>C | GRCh37 |
| NC_000011.8:g.6593310T>C | NCBI36 |
| NG_008653.1:g.8959A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1091A>G | ENSP00000507321.1:p.Glu364Gly | |
| ENST00000299427.12:c.1205A>G MANE Select | ENSP00000299427.6:p.Glu402Gly | |
| ENST00000436873.7:c.442A>G | ||
| ENST00000524924.2:n.325A>G | ||
| ENST00000533371.6:c.476A>G | ENSP00000437066.1:p.Glu159Gly | |
| ENST00000642892.1:c.476A>G | ENSP00000494165.1:p.Glu159Gly | |
| ENST00000643342.1:c.278A>G | ||
| ENST00000643439.1:c.*945A>G | ENSP00000495849.1:n.*945A>G | |
| ENST00000643479.1:n.1391A>G | ||
| ENST00000643516.1:c.714A>G | ||
| ENST00000644218.1:c.1016A>G | ENSP00000493574.1:p.Glu339Gly | |
| ENST00000644683.1:c.*658A>G | ENSP00000494085.1:n.*658A>G | |
| ENST00000644810.1:c.926A>G | ENSP00000495895.1:p.Glu309Gly | |
| ENST00000644831.1:n.1381A>G | ||
| ENST00000644933.1:c.*71A>G | ENSP00000496133.1:n.*71A>G | |
| ENST00000645285.1:c.*71A>G | ENSP00000495058.1:n.*71A>G | |
| ENST00000645331.1:n.2410A>G | ||
| ENST00000645620.1:c.476A>G | ENSP00000493657.1:p.Glu159Gly | |
| ENST00000646691.1:n.980A>G | ||
| ENST00000646777.1:n.1538A>G | ||
| ENST00000647016.1:n.1685A>G | ||
| ENST00000647152.1:c.476A>G | ENSP00000495893.1:p.Glu159Gly | |
| ENST00000647209.1:c.*1074A>G | ENSP00000495558.1:n.*1074A>G | |
| ENST00000647346.1:n.2225A>G | ||
| ENST00000299427.10:c.1205A>G | ENSP00000299427.6:p.Glu402Gly | |
| ENST00000524924.1:n.160A>G | ||
| ENST00000532191.1:n.258A>G | ||
| ENST00000533371.5:c.476A>G | ENSP00000437066.1:p.Glu159Gly | |
| ENST00000611494.4:c.1205A>G | ENSP00000484546.1:p.Glu402Gly | |
| NM_000391.3:c.1205A>G | NP_000382.3:p.Glu402Gly | |
| NM_000391.4:c.1205A>G MANE Select | NP_000382.3:p.Glu402Gly |