Linked Data
ClinVar Variation Id:
24830
ClinVar RCV Id:
RCV000418132
RCV000425278
RCV000428136
RCV000428393
RCV000438396
RCV000436432
RCV000441273
RCV000418748
RCV002228051
RCV002470716
dbSNP Id:
rs80338963
COSMIC:
COSM1158192
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51065548C>G , CM000680.2:g.51065548C>G | GRCh38 |
| NC_000018.9:g.48591918C>G , CM000680.1:g.48591918C>G | GRCh37 |
| NC_000018.8:g.46845916C>G | NCBI36 |
| NG_013013.2:g.102509C>G , LRG_318:g.102509C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1081C>G | ENSP00000465878.2:p.Arg361Gly | |
| ENST00000589076.6:c.1081C>G | ENSP00000466934.2:p.Arg361Gly | |
| ENST00000589941.2:c.1081C>G | ENSP00000465874.2:p.Arg361Gly | |
| ENST00000590061.2:c.1081C>G | ENSP00000464772.2:p.Arg361Gly | |
| ENST00000593223.2:c.1081C>G | ENSP00000466118.2:p.Arg361Gly | |
| ENST00000611848.2:c.1081C>G | ENSP00000478613.2:p.Arg361Gly | |
| ENST00000684953.1:n.2453C>G | ||
| ENST00000685090.1:n.1532C>G | ||
| ENST00000685232.1:n.1189C>G | ||
| ENST00000688307.1:n.332C>G | ||
| ENST00000688574.1:n.1189C>G | ||
| ENST00000688903.1:n.1295C>G | ||
| ENST00000691124.1:n.2563C>G | ||
| ENST00000342988.8:c.1081C>G MANE Select | ENSP00000341551.3:p.Arg361Gly | |
| ENST00000342988.7:c.1081C>G | ENSP00000341551.3:p.Arg361Gly | |
| ENST00000398417.6:c.1081C>G | ENSP00000381452.1:p.Arg361Gly | |
| ENST00000588745.5:c.793C>G | ENSP00000464901.1:p.Arg265Gly | |
| ENST00000591126.5:n.3082C>G | ||
| ENST00000592186.5:c.955+5632C>G | ENSP00000468611.1:n.955+5632C>G | |
| ENST00000611848.1:c.281C>G | ||
| NM_005359.5:c.1081C>G , LRG_318t1:c.1081C>G | NP_005350.1:p.Arg361Gly | |
| NM_005359.6:c.1081C>G MANE Select | NP_005350.1:p.Arg361Gly |