Linked Data
ClinVar Variation Id:
527755
dbSNP Id:
rs1314521780
gnomAD v2:
11-6637662-A-C
gnomAD v4:
11-6616431-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616431A>C , CM000673.2:g.6616431A>C | GRCh38 |
| NC_000011.9:g.6637662A>C , CM000673.1:g.6637662A>C | GRCh37 |
| NC_000011.8:g.6594238A>C | NCBI36 |
| NG_008653.1:g.8031T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.845T>G | ENSP00000507321.1:p.Val282Gly | |
| ENST00000299427.12:c.959T>G MANE Select | ENSP00000299427.6:p.Val320Gly | |
| ENST00000436873.7:c.313-357T>G | ||
| ENST00000530040.2:n.552T>G | ||
| ENST00000533371.6:c.230T>G | ENSP00000437066.1:p.Val77Gly | |
| ENST00000642892.1:c.230T>G | ENSP00000494165.1:p.Val77Gly | |
| ENST00000643342.1:c.49T>G | ||
| ENST00000643439.1:c.*699T>G | ENSP00000495849.1:n.*699T>G | |
| ENST00000643479.1:n.1145T>G | ||
| ENST00000643516.1:c.468T>G | ||
| ENST00000644218.1:c.886+230T>G | ENSP00000493574.1:n.886+230T>G | |
| ENST00000644683.1:c.*412T>G | ENSP00000494085.1:n.*412T>G | |
| ENST00000644810.1:c.680T>G | ENSP00000495895.1:p.Val227Gly | |
| ENST00000644831.1:n.1135T>G | ||
| ENST00000644933.1:c.230T>G | ENSP00000496133.1:p.Val77Gly | |
| ENST00000645285.1:c.157+230T>G | ENSP00000495058.1:n.157+230T>G | |
| ENST00000645331.1:n.1482T>G | ||
| ENST00000645620.1:c.230T>G | ENSP00000493657.1:p.Val77Gly | |
| ENST00000646691.1:n.52T>G | ||
| ENST00000646777.1:n.1292T>G | ||
| ENST00000647016.1:n.1439T>G | ||
| ENST00000647152.1:c.230T>G | ENSP00000495893.1:p.Val77Gly | |
| ENST00000647209.1:c.*828T>G | ENSP00000495558.1:n.*828T>G | |
| ENST00000647346.1:n.1979T>G | ||
| ENST00000299427.10:c.959T>G | ENSP00000299427.6:p.Val320Gly | |
| ENST00000436873.6:c.523T>G | ENSP00000398136.2:p.Cys175Gly | |
| ENST00000533371.5:c.230T>G | ENSP00000437066.1:p.Val77Gly | |
| ENST00000611494.4:c.959T>G | ENSP00000484546.1:p.Val320Gly | |
| NM_000391.3:c.959T>G | NP_000382.3:p.Val320Gly | |
| NM_000391.4:c.959T>G MANE Select | NP_000382.3:p.Val320Gly |