Linked Data
ClinVar Variation Id:
1030625
ClinVar RCV Id:
RCV001332225
dbSNP Id:
rs2056021410
COSMIC:
COSM3717388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42900935A>G , CM000679.2:g.42900935A>G | GRCh38 |
| NC_000017.10:g.41052952A>G , CM000679.1:g.41052952A>G | GRCh37 |
| NC_000017.9:g.38306478A>G | NCBI36 |
| NG_011808.1:g.5138A>G , LRG_147:g.5138A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253801.7:c.59A>G MANE Select | ENSP00000253801.1:p.Gln20Arg | |
| ENST00000253801.6:c.59A>G | ENSP00000253801.1:p.Gln20Arg | |
| ENST00000585489.1:c.59A>G | ENSP00000466202.1:p.Gln20Arg | |
| ENST00000588481.1:n.124A>G | ||
| ENST00000592383.5:c.59A>G | ENSP00000465958.1:p.Gln20Arg | |
| NM_000151.3:c.59A>G | NP_000142.2:p.Gln20Arg | |
| NM_001270397.1:c.59A>G | NP_001257326.1:p.Gln20Arg | |
| NM_000151.4:c.59A>G MANE Select | NP_000142.2:p.Gln20Arg | |
| NM_001270397.2:c.59A>G | NP_001257326.1:p.Gln20Arg |