Linked Data
ClinVar Variation Id:
91733
dbSNP Id:
rs398122712
gnomAD v2:
13-32950873-A-T
gnomAD v4:
13-32376736-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32376736A>T , CM000675.2:g.32376736A>T | GRCh38 |
| NC_000013.10:g.32950873A>T , CM000675.1:g.32950873A>T | GRCh37 |
| NC_000013.9:g.31848873A>T | NCBI36 |
| NG_012772.3:g.66257A>T , LRG_293:g.66257A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8699A>T | ENSP00000434898.2:p.Asp2900Val | |
| ENST00000528762.2:c.*66A>T | ENSP00000433168.2:n.*66A>T | |
| ENST00000530893.7:c.8330A>T | ENSP00000499438.2:p.Asp2777Val | |
| ENST00000665585.2:c.*261A>T | ENSP00000499570.2:n.*261A>T | |
| ENST00000666593.2:c.8699A>T | ENSP00000499256.2:p.Asp2900Val | |
| ENST00000700202.2:c.8699A>T | ENSP00000514856.2:p.Asp2900Val | |
| ENST00000700202.1:c.1166A>T | ENSP00000514856.1:p.Asp389Val | |
| ENST00000700203.1:n.826A>T | ||
| ENST00000380152.8:c.8699A>T MANE Select | ENSP00000369497.3:p.Asp2900Val | |
| ENST00000544455.6:c.8699A>T | ENSP00000439902.1:p.Asp2900Val | |
| ENST00000614259.2:c.8707A>T | ENSP00000506251.1:n.8707A>T | |
| ENST00000665585.1:c.1577A>T | ||
| ENST00000680887.1:c.8699A>T | ENSP00000505508.1:p.Asp2900Val | |
| ENST00000380152.7:c.8699A>T | ENSP00000369497.3:p.Asp2900Val | |
| ENST00000528762.1:c.261A>T | ENSP00000433168.1:n.261A>T | |
| ENST00000544455.5:c.8699A>T | ENSP00000439902.1:p.Asp2900Val | |
| NM_000059.3:c.8699A>T , LRG_293t1:c.8699A>T | NP_000050.2:p.Asp2900Val | |
| XM_011535203.1:c.8699A>T | XP_011533505.1:p.Asp2900Val | |
| XM_011535204.1:c.8603A>T | XP_011533506.1:p.Asp2868Val | |
| XM_011535205.1:c.8699A>T | XP_011533507.1:p.Asp2900Val | |
| NM_000059.4:c.8699A>T MANE Select | NP_000050.3:p.Asp2900Val |