Linked Data
ClinVar Variation Id:
52491
dbSNP Id:
rs80359044
gnomAD v2:
13-32937398-G-T
gnomAD v4:
13-32363261-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32363261G>T , CM000675.2:g.32363261G>T | GRCh38 |
| NC_000013.10:g.32937398G>T , CM000675.1:g.32937398G>T | GRCh37 |
| NC_000013.9:g.31835398G>T | NCBI36 |
| NG_012772.3:g.52782G>T , LRG_293:g.52782G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8059G>T | ENSP00000434898.2:p.Val2687Phe | |
| ENST00000528762.2:c.8059G>T | ENSP00000433168.2:p.Val2687Phe | |
| ENST00000530893.7:c.7690G>T | ENSP00000499438.2:p.Val2564Phe | |
| ENST00000665585.2:c.8059G>T | ENSP00000499570.2:p.Val2687Phe | |
| ENST00000666593.2:c.8059G>T | ENSP00000499256.2:p.Val2687Phe | |
| ENST00000700202.2:c.8059G>T | ENSP00000514856.2:p.Val2687Phe | |
| ENST00000700202.1:c.526G>T | ENSP00000514856.1:p.Val176Phe | |
| ENST00000380152.8:c.8059G>T MANE Select | ENSP00000369497.3:p.Val2687Phe | |
| ENST00000544455.6:c.8059G>T | ENSP00000439902.1:p.Val2687Phe | |
| ENST00000614259.2:c.8067G>T | ENSP00000506251.1:n.8067G>T | |
| ENST00000665585.1:c.624G>T | ||
| ENST00000680887.1:c.8059G>T | ENSP00000505508.1:p.Val2687Phe | |
| ENST00000380152.7:c.8059G>T | ENSP00000369497.3:p.Val2687Phe | |
| ENST00000544455.5:c.8059G>T | ENSP00000439902.1:p.Val2687Phe | |
| NM_000059.3:c.8059G>T , LRG_293t1:c.8059G>T | NP_000050.2:p.Val2687Phe | |
| XM_011535203.1:c.8059G>T | XP_011533505.1:p.Val2687Phe | |
| XM_011535204.1:c.7963G>T | XP_011533506.1:p.Val2655Phe | |
| XM_011535205.1:c.8059G>T | XP_011533507.1:p.Val2687Phe | |
| NM_000059.4:c.8059G>T MANE Select | NP_000050.3:p.Val2687Phe |