Linked Data
ClinVar Variation Id:
441516
dbSNP Id:
rs730881584
gnomAD v2:
13-32972888-C-A
gnomAD v3:
13-32398751-C-A
gnomAD v4:
13-32398751-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398751C>A , CM000675.2:g.32398751C>A | GRCh38 |
| NC_000013.10:g.32972888C>A , CM000675.1:g.32972888C>A | GRCh37 |
| NC_000013.9:g.31870888C>A | NCBI36 |
| NG_012772.3:g.88272C>A , LRG_293:g.88272C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*761C>A | ENSP00000434898.2:n.*761C>A | |
| ENST00000528762.2:c.*1605C>A | ENSP00000433168.2:n.*1605C>A | |
| ENST00000530893.7:c.9869C>A | ENSP00000499438.2:p.Thr3290Lys | |
| ENST00000665585.2:c.*1800C>A | ENSP00000499570.2:n.*1800C>A | |
| ENST00000700202.2:c.10187C>A | ENSP00000514856.2:p.Thr3396Lys | |
| ENST00000700202.1:c.2654C>A | ENSP00000514856.1:p.Thr885Lys | |
| ENST00000700203.1:n.2365C>A | ||
| ENST00000380152.8:c.10238C>A MANE Select | ENSP00000369497.3:p.Thr3413Lys | |
| ENST00000544455.6:c.10238C>A | ENSP00000439902.1:p.Thr3413Lys | |
| ENST00000614259.2:c.10246C>A | ENSP00000506251.1:n.10246C>A | |
| ENST00000680887.1:c.10238C>A | ENSP00000505508.1:p.Thr3413Lys | |
| ENST00000380152.7:c.10238C>A | ENSP00000369497.3:p.Thr3413Lys | |
| ENST00000544455.5:c.10238C>A | ENSP00000439902.1:p.Thr3413Lys | |
| NM_000059.3:c.10238C>A , LRG_293t1:c.10238C>A | NP_000050.2:p.Thr3413Lys | |
| XM_011535203.1:c.10238C>A | XP_011533505.1:p.Thr3413Lys | |
| XM_011535204.1:c.10142C>A | XP_011533506.1:p.Thr3381Lys | |
| NM_000059.4:c.10238C>A MANE Select | NP_000050.3:p.Thr3413Lys |