Linked Data
ClinVar Variation Id:
231093
dbSNP Id:
rs876658955
gnomAD v2:
13-32953596-T-C
gnomAD v4:
13-32379459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379459T>C , CM000675.2:g.32379459T>C | GRCh38 |
| NC_000013.10:g.32953596T>C , CM000675.1:g.32953596T>C | GRCh37 |
| NC_000013.9:g.31851596T>C | NCBI36 |
| NG_012772.3:g.68980T>C , LRG_293:g.68980T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8897T>C | ENSP00000434898.2:p.Val2966Ala | |
| ENST00000528762.2:c.*264T>C | ENSP00000433168.2:n.*264T>C | |
| ENST00000530893.7:c.8528T>C | ENSP00000499438.2:p.Val2843Ala | |
| ENST00000665585.2:c.*459T>C | ENSP00000499570.2:n.*459T>C | |
| ENST00000666593.2:c.8897T>C | ENSP00000499256.2:p.Val2966Ala | |
| ENST00000700202.2:c.8897T>C | ENSP00000514856.2:p.Val2966Ala | |
| ENST00000700202.1:c.1364T>C | ENSP00000514856.1:p.Val455Ala | |
| ENST00000700203.1:n.1024T>C | ||
| ENST00000380152.8:c.8897T>C MANE Select | ENSP00000369497.3:p.Val2966Ala | |
| ENST00000544455.6:c.8897T>C | ENSP00000439902.1:p.Val2966Ala | |
| ENST00000614259.2:c.8905T>C | ENSP00000506251.1:n.8905T>C | |
| ENST00000665585.1:c.1775T>C | ||
| ENST00000680887.1:c.8897T>C | ENSP00000505508.1:p.Val2966Ala | |
| ENST00000380152.7:c.8897T>C | ENSP00000369497.3:p.Val2966Ala | |
| ENST00000528762.1:c.459T>C | ENSP00000433168.1:n.459T>C | |
| ENST00000544455.5:c.8897T>C | ENSP00000439902.1:p.Val2966Ala | |
| NM_000059.3:c.8897T>C , LRG_293t1:c.8897T>C | NP_000050.2:p.Val2966Ala | |
| XM_011535203.1:c.8897T>C | XP_011533505.1:p.Val2966Ala | |
| XM_011535204.1:c.8801T>C | XP_011533506.1:p.Val2934Ala | |
| XM_011535205.1:c.8755-291T>C | XP_011533507.1:n.8755-291T>C | |
| NM_000059.4:c.8897T>C MANE Select | NP_000050.3:p.Val2966Ala |