Linked Data
ClinVar Variation Id:
185084
dbSNP Id:
rs786201916
gnomAD v2:
13-32893462-G-A
gnomAD v4:
13-32319325-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32319325G>A , CM000675.2:g.32319325G>A | GRCh38 |
| NC_000013.10:g.32893462G>A , CM000675.1:g.32893462G>A | GRCh37 |
| NC_000013.9:g.31791462G>A | NCBI36 |
| NG_012772.3:g.8846G>A , LRG_293:g.8846G>A | |
| NG_017006.2:g.1039C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.316G>A | ENSP00000434898.2:p.Gly106Arg | |
| ENST00000528762.2:c.316G>A | ENSP00000433168.2:p.Gly106Arg | |
| ENST00000530893.7:c.-54G>A | ENSP00000499438.2:n.-54G>A | |
| ENST00000665585.2:c.316G>A | ENSP00000499570.2:p.Gly106Arg | |
| ENST00000666593.2:c.316G>A | ENSP00000499256.2:p.Gly106Arg | |
| ENST00000700202.2:c.316G>A | ENSP00000514856.2:p.Gly106Arg | |
| ENST00000700200.1:n.191+2798G>A | ||
| ENST00000700201.1:c.316G>A | ENSP00000514855.1:p.Ala106Thr | |
| ENST00000380152.8:c.316G>A MANE Select | ENSP00000369497.3:p.Gly106Arg | |
| ENST00000544455.6:c.316G>A | ENSP00000439902.1:p.Gly106Arg | |
| ENST00000614259.2:c.316G>A | ENSP00000506251.1:p.Gly106Arg | |
| ENST00000680887.1:c.316G>A | ENSP00000505508.1:p.Gly106Arg | |
| ENST00000380152.7:c.316G>A | ENSP00000369497.3:p.Gly106Arg | |
| ENST00000530893.6:n.514G>A | ||
| ENST00000544455.5:c.316G>A | ENSP00000439902.1:p.Gly106Arg | |
| ENST00000614259.1:n.316G>A | ||
| NM_000059.3:c.316G>A , LRG_293t1:c.316G>A | NP_000050.2:p.Gly106Arg | |
| XM_011535203.1:c.316G>A | XP_011533505.1:p.Gly106Arg | |
| XM_011535204.1:c.316G>A | XP_011533506.1:p.Gly106Arg | |
| XM_011535205.1:c.316G>A | XP_011533507.1:p.Gly106Arg | |
| NM_000059.4:c.316G>A MANE Select | NP_000050.3:p.Gly106Arg |