Linked Data
ClinVar Variation Id:
924139
ClinVar RCV Id:
RCV001185335
dbSNP Id:
rs2043116606
COSMIC:
COSM6463927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48441745A>G , CM000677.2:g.48441745A>G | GRCh38 |
| NC_000015.9:g.48733942A>G , CM000677.1:g.48733942A>G | GRCh37 |
| NC_000015.8:g.46521234A>G | NCBI36 |
| NG_008805.2:g.209044T>C , LRG_778:g.209044T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6139T>C | ENSP00000453958.2:p.Ser2047Pro | |
| ENST00000674301.2:c.6139T>C | ENSP00000501333.2:p.Ser2047Pro | |
| ENST00000316623.10:c.6139T>C MANE Select | ENSP00000325527.5:p.Ser2047Pro | |
| ENST00000674301.1:c.1138T>C | ENSP00000501333.1:p.Ser380Pro | |
| ENST00000316623.9:c.6139T>C | ENSP00000325527.5:p.Ser2047Pro | |
| ENST00000537463.6:c.*1902T>C | ENSP00000440294.2:n.*1902T>C | |
| ENST00000559133.5:c.1446T>C | ||
| ENST00000560820.1:n.259T>C | ||
| NM_000138.4:c.6139T>C , LRG_778t1:c.6139T>C | NP_000129.3:p.Ser2047Pro | |
| NM_000138.5:c.6139T>C MANE Select | NP_000129.3:p.Ser2047Pro |