Linked Data
ClinVar Variation Id:
51335
ClinVar RCV Id:
RCV002514189
dbSNP Id:
rs145988146
PubMed:
PMID:21939546
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32319282C>G , CM000675.2:g.32319282C>G | GRCh38 |
| NC_000013.10:g.32893419C>G , CM000675.1:g.32893419C>G | GRCh37 |
| NC_000013.9:g.31791419C>G | NCBI36 |
| NG_012772.3:g.8803C>G , LRG_293:g.8803C>G | |
| NG_017006.2:g.1082G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.273C>G | ENSP00000434898.2:p.Tyr91Ter | |
| ENST00000528762.2:c.273C>G | ENSP00000433168.2:p.Tyr91Ter | |
| ENST00000530893.7:c.-97C>G | ENSP00000499438.2:n.-97C>G | |
| ENST00000665585.2:c.273C>G | ENSP00000499570.2:p.Tyr91Ter | |
| ENST00000666593.2:c.273C>G | ENSP00000499256.2:p.Tyr91Ter | |
| ENST00000700202.2:c.273C>G | ENSP00000514856.2:p.Tyr91Ter | |
| ENST00000700200.1:n.191+2755C>G | ||
| ENST00000700201.1:c.273C>G | ENSP00000514855.1:p.Tyr91Ter | |
| ENST00000380152.8:c.273C>G MANE Select | ENSP00000369497.3:p.Tyr91Ter | |
| ENST00000544455.6:c.273C>G | ENSP00000439902.1:p.Tyr91Ter | |
| ENST00000614259.2:c.273C>G | ENSP00000506251.1:p.Tyr91Ter | |
| ENST00000680887.1:c.273C>G | ENSP00000505508.1:p.Tyr91Ter | |
| ENST00000380152.7:c.273C>G | ENSP00000369497.3:p.Tyr91Ter | |
| ENST00000530893.6:n.471C>G | ||
| ENST00000544455.5:c.273C>G | ENSP00000439902.1:p.Tyr91Ter | |
| ENST00000614259.1:n.273C>G | ||
| NM_000059.3:c.273C>G , LRG_293t1:c.273C>G | NP_000050.2:p.Tyr91Ter | |
| XM_011535203.1:c.273C>G | XP_011533505.1:p.Tyr91Ter | |
| XM_011535204.1:c.273C>G | XP_011533506.1:p.Tyr91Ter | |
| XM_011535205.1:c.273C>G | XP_011533507.1:p.Tyr91Ter | |
| NM_000059.4:c.273C>G MANE Select | NP_000050.3:p.Tyr91Ter |