Linked Data
ClinVar Variation Id:
376557
ClinVar RCV Id:
RCV000427598
dbSNP Id:
rs1057519974
COSMIC:
COSM3367449
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.73946734A>T , CM000670.2:g.73946734A>T | GRCh38 |
| NC_000008.10:g.74858969A>T , CM000670.1:g.74858969A>T | GRCh37 |
| NC_000008.9:g.75021523A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519487.6:c.304T>A | ENSP00000429596.2:p.Tyr102Asn | |
| ENST00000622804.2:c.235T>A | ENSP00000478121.1:p.Tyr79Asn | |
| ENST00000685250.1:n.343T>A | ||
| ENST00000685938.1:c.298T>A | ENSP00000509885.1:p.Tyr100Asn | |
| ENST00000687224.1:c.235T>A | ENSP00000509184.1:p.Tyr79Asn | |
| ENST00000688584.1:c.187T>A | ENSP00000509989.1:p.Tyr63Asn | |
| ENST00000692141.1:n.4309T>A | ||
| ENST00000520242.6:c.235T>A MANE Select | ENSP00000428171.1:p.Tyr79Asn | |
| ENST00000284811.12:c.235T>A | ENSP00000284811.8:p.Tyr79Asn | |
| ENST00000518127.5:c.235T>A | ENSP00000428334.1:p.Tyr79Asn | |
| ENST00000519082.5:c.235T>A | ENSP00000429789.1:p.Tyr79Asn | |
| ENST00000519487.5:c.235T>A | ENSP00000429596.1:p.Tyr79Asn | |
| ENST00000520210.1:c.187T>A | ENSP00000430224.1:p.Tyr63Asn | |
| ENST00000520242.5:c.235T>A | ENSP00000428171.1:p.Tyr79Asn | |
| ENST00000522337.5:c.235T>A | ENSP00000429906.1:p.Tyr79Asn | |
| ENST00000523815.5:c.235T>A | ENSP00000428074.1:p.Tyr79Asn | |
| ENST00000602840.5:c.149-5129T>A | ENSP00000473408.1:n.149-5129T>A | |
| ENST00000622804.1:c.235T>A | ENSP00000478121.1:p.Tyr79Asn | |
| NM_001204857.1:c.235T>A | NP_001191786.1:p.Tyr79Asn | |
| NM_001204858.1:c.235T>A | NP_001191787.1:p.Tyr79Asn | |
| NM_001204859.1:c.235T>A | NP_001191788.1:p.Tyr79Asn | |
| NM_001204860.1:c.235T>A | NP_001191789.1:p.Tyr79Asn | |
| NM_001204861.1:c.235T>A | NP_001191790.1:p.Tyr79Asn | |
| NM_001204862.1:c.235T>A | NP_001191791.1:p.Tyr79Asn | |
| NM_001204863.1:c.187T>A | NP_001191792.1:p.Tyr63Asn | |
| NM_001204864.1:c.187T>A | NP_001191793.1:p.Tyr63Asn | |
| NM_005648.3:c.235T>A | NP_005639.1:p.Tyr79Asn | |
| XM_011517580.1:c.235T>A | XP_011515882.1:p.Tyr79Asn | |
| XM_011517581.1:c.235T>A | XP_011515883.1:p.Tyr79Asn | |
| XM_011517580.2:c.235T>A | XP_011515882.1:p.Tyr79Asn | |
| XM_011517581.2:c.235T>A | XP_011515883.1:p.Tyr79Asn | |
| NM_001204858.2:c.235T>A | NP_001191787.1:p.Tyr79Asn | |
| NM_001204859.2:c.235T>A | NP_001191788.1:p.Tyr79Asn | |
| NM_001204863.2:c.187T>A | NP_001191792.1:p.Tyr63Asn | |
| NM_005648.4:c.235T>A MANE Select | NP_005639.1:p.Tyr79Asn | |
| NM_001204857.2:c.235T>A | NP_001191786.1:p.Tyr79Asn | |
| NM_001204860.2:c.235T>A | NP_001191789.1:p.Tyr79Asn | |
| NM_001204861.2:c.235T>A | NP_001191790.1:p.Tyr79Asn | |
| NM_001204862.2:c.235T>A | NP_001191791.1:p.Tyr79Asn | |
| NM_001204864.2:c.187T>A | NP_001191793.1:p.Tyr63Asn |