Linked Data
ClinVar Variation Id:
234098
dbSNP Id:
rs553440338
ExAC:
13:32953497 G / C
gnomAD v2:
13-32953497-G-C
gnomAD v3:
13-32379360-G-C
gnomAD v4:
13-32379360-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379360G>C , CM000675.2:g.32379360G>C | GRCh38 |
| NC_000013.10:g.32953497G>C , CM000675.1:g.32953497G>C | GRCh37 |
| NC_000013.9:g.31851497G>C | NCBI36 |
| NG_012772.3:g.68881G>C , LRG_293:g.68881G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8798G>C | ENSP00000434898.2:p.Arg2933Thr | |
| ENST00000528762.2:c.*165G>C | ENSP00000433168.2:n.*165G>C | |
| ENST00000530893.7:c.8429G>C | ENSP00000499438.2:p.Arg2810Thr | |
| ENST00000665585.2:c.*360G>C | ENSP00000499570.2:n.*360G>C | |
| ENST00000666593.2:c.8798G>C | ENSP00000499256.2:p.Arg2933Thr | |
| ENST00000700202.2:c.8798G>C | ENSP00000514856.2:p.Arg2933Thr | |
| ENST00000700202.1:c.1265G>C | ENSP00000514856.1:p.Arg422Thr | |
| ENST00000700203.1:n.925G>C | ||
| ENST00000380152.8:c.8798G>C MANE Select | ENSP00000369497.3:p.Arg2933Thr | |
| ENST00000544455.6:c.8798G>C | ENSP00000439902.1:p.Arg2933Thr | |
| ENST00000614259.2:c.8806G>C | ENSP00000506251.1:n.8806G>C | |
| ENST00000665585.1:c.1676G>C | ||
| ENST00000680887.1:c.8798G>C | ENSP00000505508.1:p.Arg2933Thr | |
| ENST00000380152.7:c.8798G>C | ENSP00000369497.3:p.Arg2933Thr | |
| ENST00000528762.1:c.360G>C | ENSP00000433168.1:n.360G>C | |
| ENST00000544455.5:c.8798G>C | ENSP00000439902.1:p.Arg2933Thr | |
| NM_000059.3:c.8798G>C , LRG_293t1:c.8798G>C | NP_000050.2:p.Arg2933Thr | |
| XM_011535203.1:c.8798G>C | XP_011533505.1:p.Arg2933Thr | |
| XM_011535204.1:c.8702G>C | XP_011533506.1:p.Arg2901Thr | |
| XM_011535205.1:c.8755-390G>C | XP_011533507.1:n.8755-390G>C | |
| NM_000059.4:c.8798G>C MANE Select | NP_000050.3:p.Arg2933Thr |