Linked Data
ClinVar Variation Id:
489793
dbSNP Id:
rs751787816
ExAC:
13:32953904 C / T
gnomAD v2:
13-32953904-C-T
gnomAD v4:
13-32379767-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379767C>T , CM000675.2:g.32379767C>T | GRCh38 |
| NC_000013.10:g.32953904C>T , CM000675.1:g.32953904C>T | GRCh37 |
| NC_000013.9:g.31851904C>T | NCBI36 |
| NG_012772.3:g.69288C>T , LRG_293:g.69288C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8971C>T | ENSP00000434898.2:p.Arg2991Cys | |
| ENST00000528762.2:c.*338C>T | ENSP00000433168.2:n.*338C>T | |
| ENST00000530893.7:c.8602C>T | ENSP00000499438.2:p.Arg2868Cys | |
| ENST00000665585.2:c.*533C>T | ENSP00000499570.2:n.*533C>T | |
| ENST00000666593.2:c.8971C>T | ENSP00000499256.2:p.Arg2991Cys | |
| ENST00000700202.2:c.8954-34C>T | ENSP00000514856.2:n.8954-34C>T | |
| ENST00000700202.1:c.1421-34C>T | ENSP00000514856.1:n.1421-34C>T | |
| ENST00000700203.1:n.1098C>T | ||
| ENST00000380152.8:c.8971C>T MANE Select | ENSP00000369497.3:p.Arg2991Cys | |
| ENST00000544455.6:c.8971C>T | ENSP00000439902.1:p.Arg2991Cys | |
| ENST00000614259.2:c.8979C>T | ENSP00000506251.1:n.8979C>T | |
| ENST00000665585.1:c.1849C>T | ||
| ENST00000680887.1:c.8971C>T | ENSP00000505508.1:p.Arg2991Cys | |
| ENST00000380152.7:c.8971C>T | ENSP00000369497.3:p.Arg2991Cys | |
| ENST00000544455.5:c.8971C>T | ENSP00000439902.1:p.Arg2991Cys | |
| NM_000059.3:c.8971C>T , LRG_293t1:c.8971C>T | NP_000050.2:p.Arg2991Cys | |
| XM_011535203.1:c.8971C>T | XP_011533505.1:p.Arg2991Cys | |
| XM_011535204.1:c.8875C>T | XP_011533506.1:p.Arg2959Cys | |
| XM_011535205.1:c.*9C>T | XP_011533507.1:n.*9C>T | |
| NM_000059.4:c.8971C>T MANE Select | NP_000050.3:p.Arg2991Cys |