Linked Data
ClinVar Variation Id:
376515
dbSNP Id:
rs1057519949
COSMIC:
COSM485065
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151490964A>T , CM000669.2:g.151490964A>T | GRCh38 |
| NC_000007.13:g.151188050A>T , CM000669.1:g.151188050A>T | GRCh37 |
| NC_000007.12:g.150818983A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262187.10:c.103T>A MANE Select | ENSP00000262187.5:p.Tyr35Asn | |
| ENST00000262187.9:c.103T>A | ENSP00000262187.5:p.Tyr35Asn | |
| ENST00000470370.1:c.-213T>A | ENSP00000417212.1:n.-213T>A | |
| ENST00000472642.5:c.-213T>A | ENSP00000420726.1:n.-213T>A | |
| ENST00000478470.5:c.*51T>A | ENSP00000417802.1:n.*51T>A | |
| ENST00000496004.5:c.-213T>A | ENSP00000418161.1:n.-213T>A | |
| NM_005614.3:c.103T>A | NP_005605.1:p.Tyr35Asn | |
| XM_011516457.1:c.70T>A | XP_011514759.1:p.Tyr24Asn | |
| XM_011516457.2:c.70T>A | XP_011514759.1:p.Tyr24Asn | |
| XM_024446854.1:c.70T>A | XP_024302622.1:p.Tyr24Asn | |
| NM_005614.4:c.103T>A MANE Select | NP_005605.1:p.Tyr35Asn |