Linked Data
ClinVar Variation Id:
279803
dbSNP Id:
rs886041197
COSMIC:
COSM1029101
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63495909C>T , CM000682.2:g.63495909C>T | GRCh38 |
| NC_000020.10:g.62127262C>T , CM000682.1:g.62127262C>T | GRCh37 |
| NC_000020.9:g.61597706C>T | NCBI36 |
| NG_034083.1:g.8407G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706948.1:c.271G>A | ENSP00000516668.1:p.Asp91Asn | |
| ENST00000706949.1:c.271G>A | ENSP00000516669.1:p.Asp91Asn | |
| ENST00000217182.6:c.271G>A MANE Select | ENSP00000217182.3:p.Asp91Asn | |
| ENST00000298049.12:c.271G>A | ENSP00000298049.8:p.Asp91Asn | |
| ENST00000642899.1:c.271G>A | ENSP00000493767.1:p.Asp91Asn | |
| ENST00000645357.1:c.271G>A | ENSP00000494971.1:p.Asp91Asn | |
| ENST00000645586.1:n.2840G>A | ||
| ENST00000646335.1:c.271G>A | ENSP00000494752.1:p.Asp91Asn | |
| ENST00000675519.1:c.*143G>A | ENSP00000501859.1:n.*143G>A | |
| ENST00000217182.4:c.271G>A | ENSP00000217182.3:p.Asp91Asn | |
| ENST00000298049.11:c.271G>A | ENSP00000298049.7:p.Asp91Asn | |
| NM_001958.3:c.271G>A | NP_001949.1:p.Asp91Asn | |
| NM_001958.4:c.271G>A | NP_001949.1:p.Asp91Asn | |
| NM_001958.5:c.271G>A MANE Select | NP_001949.1:p.Asp91Asn |