Linked Data
ClinVar Variation Id:
1028157
ClinVar RCV Id:
RCV001329127
dbSNP Id:
rs1726269709
COSMIC:
COSM1049449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99622741G>T , CM000666.2:g.99622741G>T | GRCh38 |
| NC_000004.11:g.100543898G>T , CM000666.1:g.100543898G>T | GRCh37 |
| NC_000004.10:g.100762921G>T | NCBI36 |
| NG_011469.1:g.63659G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265517.10:c.2578G>T MANE Select | ENSP00000265517.5:p.Glu860Ter | |
| ENST00000457717.6:c.2578G>T | ENSP00000400821.1:p.Glu860Ter | |
| ENST00000511045.6:c.2329G>T | ENSP00000427679.2:p.Glu777Ter | |
| ENST00000265517.9:c.2578G>T | ENSP00000265517.5:p.Glu860Ter | |
| ENST00000457717.5:c.2578G>T | ENSP00000400821.1:p.Glu860Ter | |
| ENST00000511045.5:c.2659G>T | ENSP00000427679.1:p.Glu887Ter | |
| ENST00000619629.1:c.*1025G>T | ENSP00000482850.1:n.*1025G>T | |
| NM_000253.3:c.2578G>T | NP_000244.2:p.Glu860Ter | |
| NM_001300785.1:c.2659G>T | NP_001287714.1:p.Glu887Ter | |
| NM_000253.4:c.2578G>T | NP_000244.2:p.Glu860Ter | |
| NM_001300785.2:c.2329G>T | NP_001287714.2:p.Glu777Ter | |
| NM_001386140.1:c.2578G>T MANE Select | NP_001373069.1:p.Glu860Ter |