Linked Data
ClinVar Variation Id:
52800
ClinVar RCV Id:
RCV000077466
RCV000131684
RCV000424310
RCV000586462
RCV000735623
RCV004537212
RCV001084297
dbSNP Id:
rs80359195
ExAC:
13:32968844 A / G
gnomAD v2:
13-32968844-A-G
gnomAD v3:
13-32394707-A-G
gnomAD v4:
13-32394707-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32394707A>G , CM000675.2:g.32394707A>G | GRCh38 |
| NC_000013.10:g.32968844A>G , CM000675.1:g.32968844A>G | GRCh37 |
| NC_000013.9:g.31866844A>G | NCBI36 |
| NG_012772.3:g.84228A>G , LRG_293:g.84228A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9275A>G | ENSP00000434898.2:p.Tyr3092Cys | |
| ENST00000528762.2:c.*642A>G | ENSP00000433168.2:n.*642A>G | |
| ENST00000530893.7:c.8906A>G | ENSP00000499438.2:p.Tyr2969Cys | |
| ENST00000665585.2:c.*837A>G | ENSP00000499570.2:n.*837A>G | |
| ENST00000666593.2:c.*120A>G | ENSP00000499256.2:n.*120A>G | |
| ENST00000700202.2:c.9224A>G | ENSP00000514856.2:p.Tyr3075Cys | |
| ENST00000700202.1:c.1691A>G | ENSP00000514856.1:p.Tyr564Cys | |
| ENST00000700203.1:n.1402A>G | ||
| ENST00000380152.8:c.9275A>G MANE Select | ENSP00000369497.3:p.Tyr3092Cys | |
| ENST00000544455.6:c.9275A>G | ENSP00000439902.1:p.Tyr3092Cys | |
| ENST00000614259.2:c.9283A>G | ENSP00000506251.1:n.9283A>G | |
| ENST00000665585.1:c.2153A>G | ||
| ENST00000666593.1:c.297A>G | ENSP00000499256.1:n.297A>G | |
| ENST00000680887.1:c.9275A>G | ENSP00000505508.1:p.Tyr3092Cys | |
| ENST00000380152.7:c.9275A>G | ENSP00000369497.3:p.Tyr3092Cys | |
| ENST00000470094.1:c.232A>G | ||
| ENST00000544455.5:c.9275A>G | ENSP00000439902.1:p.Tyr3092Cys | |
| NM_000059.3:c.9275A>G , LRG_293t1:c.9275A>G | NP_000050.2:p.Tyr3092Cys | |
| XM_011535203.1:c.9275A>G | XP_011533505.1:p.Tyr3092Cys | |
| XM_011535204.1:c.9179A>G | XP_011533506.1:p.Tyr3060Cys | |
| NM_000059.4:c.9275A>G MANE Select | NP_000050.3:p.Tyr3092Cys |