Linked Data
ClinVar Variation Id:
531527
dbSNP Id:
rs928831047
gnomAD v3:
13-32379361-G-A
gnomAD v4:
13-32379361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379361G>A , CM000675.2:g.32379361G>A | GRCh38 |
| NC_000013.10:g.32953498G>A , CM000675.1:g.32953498G>A | GRCh37 |
| NC_000013.9:g.31851498G>A | NCBI36 |
| NG_012772.3:g.68882G>A , LRG_293:g.68882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8799G>A | ENSP00000434898.2:p.Arg2933= | |
| ENST00000528762.2:c.*166G>A | ENSP00000433168.2:n.*166G>A | |
| ENST00000530893.7:c.8430G>A | ENSP00000499438.2:p.Arg2810= | |
| ENST00000665585.2:c.*361G>A | ENSP00000499570.2:n.*361G>A | |
| ENST00000666593.2:c.8799G>A | ENSP00000499256.2:p.Arg2933= | |
| ENST00000700202.2:c.8799G>A | ENSP00000514856.2:p.Arg2933= | |
| ENST00000700202.1:c.1266G>A | ENSP00000514856.1:p.Arg422= | |
| ENST00000700203.1:n.926G>A | ||
| ENST00000380152.8:c.8799G>A MANE Select | ENSP00000369497.3:p.Arg2933= | |
| ENST00000544455.6:c.8799G>A | ENSP00000439902.1:p.Arg2933= | |
| ENST00000614259.2:c.8807G>A | ENSP00000506251.1:n.8807G>A | |
| ENST00000665585.1:c.1677G>A | ||
| ENST00000680887.1:c.8799G>A | ENSP00000505508.1:p.Arg2933= | |
| ENST00000380152.7:c.8799G>A | ENSP00000369497.3:p.Arg2933= | |
| ENST00000528762.1:c.361G>A | ENSP00000433168.1:n.361G>A | |
| ENST00000544455.5:c.8799G>A | ENSP00000439902.1:p.Arg2933= | |
| NM_000059.3:c.8799G>A , LRG_293t1:c.8799G>A | NP_000050.2:p.Arg2933= | |
| XM_011535203.1:c.8799G>A | XP_011533505.1:p.Arg2933= | |
| XM_011535204.1:c.8703G>A | XP_011533506.1:p.Arg2901= | |
| XM_011535205.1:c.8755-389G>A | XP_011533507.1:n.8755-389G>A | |
| NM_000059.4:c.8799G>A MANE Select | NP_000050.3:p.Arg2933= |