Linked Data
dbSNP Id:
rs776268350
ExAC:
11:67352645 T / G
gnomAD v2:
11-67352645-T-G
gnomAD v4:
11-67585174-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585174T>G , CM000673.2:g.67585174T>G | GRCh38 |
| NC_000011.9:g.67352645T>G , CM000673.1:g.67352645T>G | GRCh37 |
| NC_000011.8:g.67109221T>G | NCBI36 |
| NG_012075.1:g.6580T>G , LRG_723:g.6580T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.269T>G | ENSP00000381604.1:p.Val90Gly | |
| ENST00000398606.10:c.269T>G MANE Select | ENSP00000381607.3:p.Val90Gly | |
| ENST00000646888.1:c.162T>G | ENSP00000494477.1:p.Gly54= | |
| ENST00000398603.5:c.269T>G | ENSP00000381604.1:p.Val90Gly | |
| ENST00000398606.7:c.269T>G | ENSP00000381607.3:p.Val90Gly | |
| ENST00000467591.1:n.380T>G | ||
| ENST00000494593.1:n.1064T>G | ||
| ENST00000498765.5:c.332T>G | ||
| NM_000852.3:c.269T>G , LRG_723t1:c.269T>G | NP_000843.1:p.Val90Gly | |
| NM_000852.4:c.269T>G MANE Select | NP_000843.1:p.Val90Gly |