Linked Data
ClinVar Variation Id:
207571
dbSNP Id:
rs775217501
ExAC:
11:6638615 A / C
gnomAD v2:
11-6638615-A-C
gnomAD v3:
11-6617384-A-C
gnomAD v4:
11-6617384-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617384A>C , CM000673.2:g.6617384A>C | GRCh38 |
| NC_000011.9:g.6638615A>C , CM000673.1:g.6638615A>C | GRCh37 |
| NC_000011.8:g.6595191A>C | NCBI36 |
| NG_008653.1:g.7078T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.311T>G | ENSP00000507321.1:p.Val104Gly | |
| ENST00000299427.12:c.425T>G MANE Select | ENSP00000299427.6:p.Val142Gly | |
| ENST00000428886.7:n.513T>G | ||
| ENST00000436873.7:c.229T>G | ||
| ENST00000524788.2:n.1437T>G | ||
| ENST00000524903.2:n.1553T>G | ||
| ENST00000528571.6:c.*165T>G | ENSP00000434647.1:n.*165T>G | |
| ENST00000528807.2:n.81T>G | ||
| ENST00000530040.2:n.454T>G | ||
| ENST00000533371.6:c.-305T>G | ENSP00000437066.1:n.-305T>G | |
| ENST00000534644.6:n.426T>G | ||
| ENST00000642892.1:c.-252T>G | ENSP00000494165.1:n.-252T>G | |
| ENST00000643439.1:c.*165T>G | ENSP00000495849.1:n.*165T>G | |
| ENST00000643479.1:n.454T>G | ||
| ENST00000643516.1:c.312T>G | ||
| ENST00000644151.1:n.1717T>G | ||
| ENST00000644218.1:c.425T>G | ENSP00000493574.1:p.Val142Gly | |
| ENST00000644683.1:c.425T>G | ENSP00000494085.1:p.Val142Gly | |
| ENST00000644810.1:c.230-231T>G | ENSP00000495895.1:n.230-231T>G | |
| ENST00000644831.1:n.454T>G | ||
| ENST00000644933.1:c.-305T>G | ENSP00000496133.1:n.-305T>G | |
| ENST00000645020.1:n.1453T>G | ||
| ENST00000645285.1:c.-305T>G | ENSP00000495058.1:n.-305T>G | |
| ENST00000645331.1:n.644T>G | ||
| ENST00000645620.1:c.-247T>G | ENSP00000493657.1:n.-247T>G | |
| ENST00000646777.1:n.454T>G | ||
| ENST00000647016.1:n.758T>G | ||
| ENST00000647152.1:c.-305T>G | ENSP00000495893.1:n.-305T>G | |
| ENST00000647209.1:c.*294T>G | ENSP00000495558.1:n.*294T>G | |
| ENST00000647346.1:n.1445T>G | ||
| ENST00000299427.10:c.425T>G | ENSP00000299427.6:p.Val142Gly | |
| ENST00000428886.6:n.447T>G | ||
| ENST00000436873.6:c.425T>G | ENSP00000398136.2:p.Val142Gly | |
| ENST00000528571.5:c.*165T>G | ENSP00000434647.1:n.*165T>G | |
| ENST00000530040.1:n.537T>G | ||
| ENST00000533371.5:c.-305T>G | ENSP00000437066.1:n.-305T>G | |
| ENST00000534644.5:n.410T>G | ||
| ENST00000611494.4:c.425T>G | ENSP00000484546.1:p.Val142Gly | |
| NM_000391.3:c.425T>G | NP_000382.3:p.Val142Gly | |
| NM_000391.4:c.425T>G MANE Select | NP_000382.3:p.Val142Gly |