Linked Data
ClinVar Variation Id:
220532
dbSNP Id:
rs864622568
gnomAD v2:
13-32953960-T-G
gnomAD v4:
13-32379823-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379823T>G , CM000675.2:g.32379823T>G | GRCh38 |
| NC_000013.10:g.32953960T>G , CM000675.1:g.32953960T>G | GRCh37 |
| NC_000013.9:g.31851960T>G | NCBI36 |
| NG_012772.3:g.69344T>G , LRG_293:g.69344T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.9027T>G | ENSP00000434898.2:p.Tyr3009Ter | |
| ENST00000528762.2:c.*394T>G | ENSP00000433168.2:n.*394T>G | |
| ENST00000530893.7:c.8658T>G | ENSP00000499438.2:p.Tyr2886Ter | |
| ENST00000665585.2:c.*589T>G | ENSP00000499570.2:n.*589T>G | |
| ENST00000666593.2:c.9027T>G | ENSP00000499256.2:p.Tyr3009Ter | |
| ENST00000700202.2:c.8976T>G | ENSP00000514856.2:p.Tyr2992Ter | |
| ENST00000700202.1:c.1443T>G | ENSP00000514856.1:p.Tyr481Ter | |
| ENST00000700203.1:n.1154T>G | ||
| ENST00000380152.8:c.9027T>G MANE Select | ENSP00000369497.3:p.Tyr3009Ter | |
| ENST00000544455.6:c.9027T>G | ENSP00000439902.1:p.Tyr3009Ter | |
| ENST00000614259.2:c.9035T>G | ENSP00000506251.1:n.9035T>G | |
| ENST00000665585.1:c.1905T>G | ||
| ENST00000680887.1:c.9027T>G | ENSP00000505508.1:p.Tyr3009Ter | |
| ENST00000380152.7:c.9027T>G | ENSP00000369497.3:p.Tyr3009Ter | |
| ENST00000544455.5:c.9027T>G | ENSP00000439902.1:p.Tyr3009Ter | |
| NM_000059.3:c.9027T>G , LRG_293t1:c.9027T>G | NP_000050.2:p.Tyr3009Ter | |
| XM_011535203.1:c.9027T>G | XP_011533505.1:p.Tyr3009Ter | |
| XM_011535204.1:c.8931T>G | XP_011533506.1:p.Tyr2977Ter | |
| XM_011535205.1:c.*65T>G | XP_011533507.1:n.*65T>G | |
| NM_000059.4:c.9027T>G MANE Select | NP_000050.3:p.Tyr3009Ter |