Linked Data
ClinVar Variation Id:
38188
dbSNP Id:
rs142040996
gnomAD v2:
13-32953565-G-C
gnomAD v3:
13-32379428-G-C
gnomAD v4:
13-32379428-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379428G>C , CM000675.2:g.32379428G>C | GRCh38 |
| NC_000013.10:g.32953565G>C , CM000675.1:g.32953565G>C | GRCh37 |
| NC_000013.9:g.31851565G>C | NCBI36 |
| NG_012772.3:g.68949G>C , LRG_293:g.68949G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8866G>C | ENSP00000434898.2:p.Glu2956Gln | |
| ENST00000528762.2:c.*233G>C | ENSP00000433168.2:n.*233G>C | |
| ENST00000530893.7:c.8497G>C | ENSP00000499438.2:p.Glu2833Gln | |
| ENST00000665585.2:c.*428G>C | ENSP00000499570.2:n.*428G>C | |
| ENST00000666593.2:c.8866G>C | ENSP00000499256.2:p.Glu2956Gln | |
| ENST00000700202.2:c.8866G>C | ENSP00000514856.2:p.Glu2956Gln | |
| ENST00000700202.1:c.1333G>C | ENSP00000514856.1:p.Glu445Gln | |
| ENST00000700203.1:n.993G>C | ||
| ENST00000380152.8:c.8866G>C MANE Select | ENSP00000369497.3:p.Glu2956Gln | |
| ENST00000544455.6:c.8866G>C | ENSP00000439902.1:p.Glu2956Gln | |
| ENST00000614259.2:c.8874G>C | ENSP00000506251.1:n.8874G>C | |
| ENST00000665585.1:c.1744G>C | ||
| ENST00000680887.1:c.8866G>C | ENSP00000505508.1:p.Glu2956Gln | |
| ENST00000380152.7:c.8866G>C | ENSP00000369497.3:p.Glu2956Gln | |
| ENST00000528762.1:c.428G>C | ENSP00000433168.1:n.428G>C | |
| ENST00000544455.5:c.8866G>C | ENSP00000439902.1:p.Glu2956Gln | |
| NM_000059.3:c.8866G>C , LRG_293t1:c.8866G>C | NP_000050.2:p.Glu2956Gln | |
| XM_011535203.1:c.8866G>C | XP_011533505.1:p.Glu2956Gln | |
| XM_011535204.1:c.8770G>C | XP_011533506.1:p.Glu2924Gln | |
| XM_011535205.1:c.8755-322G>C | XP_011533507.1:n.8755-322G>C | |
| NM_000059.4:c.8866G>C MANE Select | NP_000050.3:p.Glu2956Gln |