Linked Data
ClinVar Variation Id:
495116
ClinVar RCV Id:
RCV000585781
dbSNP Id:
rs1554571213
PubMed:
PMID:26643732
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144601A>T , CM000670.2:g.96144601A>T | GRCh38 |
| NC_000008.10:g.97156829A>T , CM000670.1:g.97156829A>T | GRCh37 |
| NC_000008.9:g.97226005A>T | NCBI36 |
| NG_008981.1:g.21192T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.1330T>A MANE Select | ENSP00000287020.4:p.Tyr444Asn | |
| ENST00000287020.6:c.1330T>A | ENSP00000287020.4:p.Tyr444Asn | |
| ENST00000620978.1:c.*54T>A | ENSP00000480170.1:n.*54T>A | |
| ENST00000621429.1:c.*17T>A | ENSP00000483711.1:n.*17T>A | |
| NM_001001557.2:c.1330T>A | NP_001001557.1:p.Tyr444Asn | |
| XM_011517030.1:c.931T>A | XP_011515332.1:p.Tyr311Asn | |
| NM_001001557.3:c.1330T>A | NP_001001557.1:p.Tyr444Asn | |
| NM_001001557.4:c.1330T>A MANE Select | NP_001001557.1:p.Tyr444Asn |