Linked Data
ClinVar Variation Id:
178034
ClinVar RCV Id:
RCV000154717
RCV000208039
RCV000245416
RCV000470522
RCV000766960
RCV001374810
RCV004534961
RCV002307411
dbSNP Id:
rs363811
COSMIC:
COSM3501811
ERepo:
CA017250/MONDO:0007947/022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48421982C>T , CM000677.2:g.48421982C>T | GRCh38 |
| NC_000015.9:g.48714179C>T , CM000677.1:g.48714179C>T | GRCh37 |
| NC_000015.8:g.46501471C>T | NCBI36 |
| NG_008805.2:g.228807G>A , LRG_778:g.228807G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*348G>A | ENSP00000453958.2:n.*348G>A | |
| ENST00000674301.2:c.*1053G>A | ENSP00000501333.2:n.*1053G>A | |
| ENST00000682170.1:n.1721G>A | ||
| ENST00000682767.1:n.837G>A | ||
| ENST00000316623.10:c.7540G>A MANE Select | ENSP00000325527.5:p.Gly2514Arg | |
| ENST00000674301.1:c.2706G>A | ENSP00000501333.1:n.2706G>A | |
| ENST00000316623.9:c.7540G>A | ENSP00000325527.5:p.Gly2514Arg | |
| ENST00000559133.5:c.2909G>A | ||
| NM_000138.4:c.7540G>A , LRG_778t1:c.7540G>A | NP_000129.3:p.Gly2514Arg | |
| NM_000138.5:c.7540G>A MANE Select | NP_000129.3:p.Gly2514Arg |