Linked Data
ClinVar Variation Id:
39705
ClinVar RCV Id:
RCV000032909
RCV000038675
RCV000417782
RCV000422744
RCV000424877
RCV000430750
RCV000432906
RCV000433635
RCV000441028
RCV000442782
RCV000423369
RCV000425540
RCV000425809
RCV000435399
RCV000440398
RCV000425119
RCV000441716
RCV000432323
RCV000436090
RCV000441963
RCV000444680
RCV000418438
RCV000420550
RCV000428005
RCV000435124
RCV000698423
RCV000763508
RCV001092441
RCV001705625
RCV002226661
RCV003233079
RCV003882732
dbSNP Id:
rs121913281
CIViC:
CA130471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179234296C>T , CM000665.2:g.179234296C>T | GRCh38 |
| NC_000003.11:g.178952084C>T , CM000665.1:g.178952084C>T | GRCh37 |
| NC_000003.10:g.180434778C>T | NCBI36 |
| NG_012113.2:g.90774C>T , LRG_310:g.90774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.3139C>T MANE Select | ENSP00000263967.3:p.His1047Tyr | |
| ENST00000462255.2:n.2162C>T | ||
| ENST00000643187.1:c.*219C>T | ENSP00000493507.1:n.*219C>T | |
| ENST00000674534.1:n.4047C>T | ||
| ENST00000674622.1:c.1560C>T | ENSP00000502417.1:n.1560C>T | |
| ENST00000675467.1:n.5946C>T | ||
| ENST00000675786.1:c.*1706C>T | ENSP00000502323.1:n.*1706C>T | |
| ENST00000675796.1:n.3034C>T | ||
| ENST00000263967.3:c.3139C>T | ENSP00000263967.3:p.His1047Tyr | |
| NM_006218.2:c.3139C>T , LRG_310t1:c.3139C>T | NP_006209.2:p.His1047Tyr | |
| XM_006713658.2:c.3139C>T | XP_006713721.1:p.His1047Tyr | |
| XM_011512894.1:c.3139C>T | XP_011511196.1:p.His1047Tyr | |
| NM_006218.3:c.3139C>T | NP_006209.2:p.His1047Tyr | |
| XM_006713658.4:c.3139C>T | XP_006713721.1:p.His1047Tyr | |
| XM_011512894.2:c.3139C>T | XP_011511196.1:p.His1047Tyr | |
| NM_006218.4:c.3139C>T MANE Select | NP_006209.2:p.His1047Tyr |