Linked Data
ClinVar Variation Id:
383800
dbSNP Id:
rs1057521734
gnomAD v3:
13-32398708-G-A
gnomAD v4:
13-32398708-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398708G>A , CM000675.2:g.32398708G>A | GRCh38 |
| NC_000013.10:g.32972845G>A , CM000675.1:g.32972845G>A | GRCh37 |
| NC_000013.9:g.31870845G>A | NCBI36 |
| NG_012772.3:g.88229G>A , LRG_293:g.88229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*718G>A | ENSP00000434898.2:n.*718G>A | |
| ENST00000528762.2:c.*1562G>A | ENSP00000433168.2:n.*1562G>A | |
| ENST00000530893.7:c.9826G>A | ENSP00000499438.2:p.Ala3276Thr | |
| ENST00000665585.2:c.*1757G>A | ENSP00000499570.2:n.*1757G>A | |
| ENST00000700202.2:c.10144G>A | ENSP00000514856.2:p.Ala3382Thr | |
| ENST00000700202.1:c.2611G>A | ENSP00000514856.1:p.Ala871Thr | |
| ENST00000700203.1:n.2322G>A | ||
| ENST00000380152.8:c.10195G>A MANE Select | ENSP00000369497.3:p.Ala3399Thr | |
| ENST00000544455.6:c.10195G>A | ENSP00000439902.1:p.Ala3399Thr | |
| ENST00000614259.2:c.10203G>A | ENSP00000506251.1:n.10203G>A | |
| ENST00000680887.1:c.10195G>A | ENSP00000505508.1:p.Ala3399Thr | |
| ENST00000380152.7:c.10195G>A | ENSP00000369497.3:p.Ala3399Thr | |
| ENST00000544455.5:c.10195G>A | ENSP00000439902.1:p.Ala3399Thr | |
| NM_000059.3:c.10195G>A , LRG_293t1:c.10195G>A | NP_000050.2:p.Ala3399Thr | |
| XM_011535203.1:c.10195G>A | XP_011533505.1:p.Ala3399Thr | |
| XM_011535204.1:c.10099G>A | XP_011533506.1:p.Ala3367Thr | |
| NM_000059.4:c.10195G>A MANE Select | NP_000050.3:p.Ala3399Thr |