Linked Data
ClinVar Variation Id:
403945
dbSNP Id:
rs371516347
ExAC:
2:73635781 A / G
gnomAD v2:
2-73635781-A-G
gnomAD v3:
2-73408653-A-G
gnomAD v4:
2-73408653-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73408653A>G , CM000664.2:g.73408653A>G | GRCh38 |
| NC_000002.11:g.73635781A>G , CM000664.1:g.73635781A>G | GRCh37 |
| NC_000002.10:g.73489289A>G | NCBI36 |
| NG_011690.1:g.27899A>G , LRG_741:g.27899A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682675.1:n.316A>G | ||
| ENST00000682889.1:n.321A>G | ||
| ENST00000684148.1:n.197-10470A>G | ||
| ENST00000613296.6:c.356A>G MANE Select | ENSP00000482968.1:p.Gln119Arg | |
| ENST00000484298.5:c.325-10470A>G | ENSP00000478155.1:n.325-10470A>G | |
| ENST00000613296.4:c.356A>G | ENSP00000482968.1:p.Gln119Arg | |
| ENST00000614410.4:c.356A>G | ENSP00000479094.1:p.Gln119Arg | |
| NM_015120.4:c.359A>G , LRG_741t1:c.359A>G | NP_055935.4:p.Gln120Arg | |
| NM_001378454.1:c.356A>G MANE Select | NP_001365383.1:p.Gln119Arg |