Linked Data
ClinVar Variation Id:
37718
dbSNP Id:
rs28897761
gnomAD v2:
13-32972674-G-A
gnomAD v3:
13-32398537-G-A
gnomAD v4:
13-32398537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398537G>A , CM000675.2:g.32398537G>A | GRCh38 |
| NC_000013.10:g.32972674G>A , CM000675.1:g.32972674G>A | GRCh37 |
| NC_000013.9:g.31870674G>A | NCBI36 |
| NG_012772.3:g.88058G>A , LRG_293:g.88058G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*547G>A | ENSP00000434898.2:n.*547G>A | |
| ENST00000528762.2:c.*1391G>A | ENSP00000433168.2:n.*1391G>A | |
| ENST00000530893.7:c.9655G>A | ENSP00000499438.2:p.Glu3219Lys | |
| ENST00000665585.2:c.*1586G>A | ENSP00000499570.2:n.*1586G>A | |
| ENST00000700202.2:c.9973G>A | ENSP00000514856.2:p.Glu3325Lys | |
| ENST00000700202.1:c.2440G>A | ENSP00000514856.1:p.Glu814Lys | |
| ENST00000700203.1:n.2151G>A | ||
| ENST00000380152.8:c.10024G>A MANE Select | ENSP00000369497.3:p.Glu3342Lys | |
| ENST00000544455.6:c.10024G>A | ENSP00000439902.1:p.Glu3342Lys | |
| ENST00000614259.2:c.10032G>A | ENSP00000506251.1:n.10032G>A | |
| ENST00000680887.1:c.10024G>A | ENSP00000505508.1:p.Glu3342Lys | |
| ENST00000380152.7:c.10024G>A | ENSP00000369497.3:p.Glu3342Lys | |
| ENST00000544455.5:c.10024G>A | ENSP00000439902.1:p.Glu3342Lys | |
| NM_000059.3:c.10024G>A , LRG_293t1:c.10024G>A | NP_000050.2:p.Glu3342Lys | |
| XM_011535203.1:c.10024G>A | XP_011533505.1:p.Glu3342Lys | |
| XM_011535204.1:c.9928G>A | XP_011533506.1:p.Glu3310Lys | |
| NM_000059.4:c.10024G>A MANE Select | NP_000050.3:p.Glu3342Lys |