Linked Data
ClinVar Variation Id:
427024
ClinVar RCV Id:
RCV000489595
dbSNP Id:
rs1085307904
COSMIC:
COSM3501807
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48412625G>A , CM000677.2:g.48412625G>A | GRCh38 |
| NC_000015.9:g.48704822G>A , CM000677.1:g.48704822G>A | GRCh37 |
| NC_000015.8:g.46492114G>A | NCBI36 |
| NG_008805.2:g.238164C>T , LRG_778:g.238164C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*978C>T | ENSP00000453958.2:n.*978C>T | |
| ENST00000674301.2:c.*1683C>T | ENSP00000501333.2:n.*1683C>T | |
| ENST00000682158.1:n.1551C>T | ||
| ENST00000682170.1:n.2351C>T | ||
| ENST00000682767.1:n.1467C>T | ||
| ENST00000316623.10:c.8170C>T MANE Select | ENSP00000325527.5:p.Pro2724Ser | |
| ENST00000674301.1:c.3336C>T | ENSP00000501333.1:n.3336C>T | |
| ENST00000316623.9:c.8170C>T | ENSP00000325527.5:p.Pro2724Ser | |
| ENST00000559133.5:c.3539C>T | ||
| ENST00000561429.1:n.425C>T | ||
| NM_000138.4:c.8170C>T , LRG_778t1:c.8170C>T | NP_000129.3:p.Pro2724Ser | |
| NM_000138.5:c.8170C>T MANE Select | NP_000129.3:p.Pro2724Ser |