Linked Data
dbSNP Id:
rs770460061
ExAC:
11:67352710 T / G
gnomAD v2:
11-67352710-T-G
gnomAD v4:
11-67585239-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585239T>G , CM000673.2:g.67585239T>G | GRCh38 |
| NC_000011.9:g.67352710T>G , CM000673.1:g.67352710T>G | GRCh37 |
| NC_000011.8:g.67109286T>G | NCBI36 |
| NG_012075.1:g.6645T>G , LRG_723:g.6645T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.334T>G | ENSP00000381604.1:p.Tyr112Asp | |
| ENST00000398606.10:c.334T>G MANE Select | ENSP00000381607.3:p.Tyr112Asp | |
| ENST00000646888.1:c.*50T>G | ENSP00000494477.1:n.*50T>G | |
| ENST00000398603.5:c.334T>G | ENSP00000381604.1:p.Tyr112Asp | |
| ENST00000398606.7:c.334T>G | ENSP00000381607.3:p.Tyr112Asp | |
| ENST00000467591.1:n.445T>G | ||
| ENST00000494593.1:n.1129T>G | ||
| ENST00000498765.5:c.397T>G | ||
| NM_000852.3:c.334T>G , LRG_723t1:c.334T>G | NP_000843.1:p.Tyr112Asp | |
| NM_000852.4:c.334T>G MANE Select | NP_000843.1:p.Tyr112Asp |