Linked Data
ClinVar Variation Id:
829479
ClinVar RCV Id:
RCV001029402
dbSNP Id:
rs1584871120
COSMIC:
COSM318429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87550026G>T , CM000669.2:g.87550026G>T | GRCh38 |
| NC_000007.13:g.87179342G>T , CM000669.1:g.87179342G>T | GRCh37 |
| NC_000007.12:g.87017278G>T | NCBI36 |
| NG_011513.1:g.168223C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1379C>A | ENSP00000265724.3:p.Thr460Asn | |
| ENST00000622132.5:c.1379C>A MANE Select | ENSP00000478255.1:p.Thr460Asn | |
| ENST00000265724.7:c.1379C>A | ENSP00000265724.3:p.Thr460Asn | |
| ENST00000482527.1:n.133C>A | ||
| ENST00000543898.5:c.1187C>A | ENSP00000444095.1:p.Thr396Asn | |
| ENST00000622132.4:c.1379C>A | ENSP00000478255.1:p.Thr460Asn | |
| NM_000927.4:c.1379C>A | NP_000918.2:p.Thr460Asn | |
| NM_001348944.1:c.1379C>A | NP_001335873.1:p.Thr460Asn | |
| NM_001348945.1:c.1589C>A | NP_001335874.1:p.Thr530Asn | |
| NM_001348946.1:c.1379C>A | NP_001335875.1:p.Thr460Asn | |
| NM_001348946.2:c.1379C>A MANE Select | NP_001335875.1:p.Thr460Asn | |
| NM_000927.5:c.1379C>A | NP_000918.2:p.Thr460Asn | |
| NM_001348944.2:c.1379C>A | NP_001335873.1:p.Thr460Asn | |
| NM_001348945.2:c.1589C>A | NP_001335874.1:p.Thr530Asn |