Linked Data
ClinVar Variation Id:
182275
dbSNP Id:
rs730881583
gnomAD v4:
13-32397028-C-A
PubMed:
PMID:18824701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32397028C>A , CM000675.2:g.32397028C>A | GRCh38 |
| NC_000013.10:g.32971165C>A , CM000675.1:g.32971165C>A | GRCh37 |
| NC_000013.9:g.31869165C>A | NCBI36 |
| NG_012772.3:g.86549C>A , LRG_293:g.86549C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*155C>A | ENSP00000434898.2:n.*155C>A | |
| ENST00000528762.2:c.*999C>A | ENSP00000433168.2:n.*999C>A | |
| ENST00000530893.7:c.9263C>A | ENSP00000499438.2:p.Thr3088Lys | |
| ENST00000665585.2:c.*1194C>A | ENSP00000499570.2:n.*1194C>A | |
| ENST00000700202.2:c.9581C>A | ENSP00000514856.2:p.Thr3194Lys | |
| ENST00000700202.1:c.2048C>A | ENSP00000514856.1:p.Thr683Lys | |
| ENST00000700203.1:n.1759C>A | ||
| ENST00000380152.8:c.9632C>A MANE Select | ENSP00000369497.3:p.Thr3211Lys | |
| ENST00000544455.6:c.9632C>A | ENSP00000439902.1:p.Thr3211Lys | |
| ENST00000614259.2:c.9640C>A | ENSP00000506251.1:n.9640C>A | |
| ENST00000665585.1:c.2510C>A | ||
| ENST00000680887.1:c.9632C>A | ENSP00000505508.1:p.Thr3211Lys | |
| ENST00000380152.7:c.9632C>A | ENSP00000369497.3:p.Thr3211Lys | |
| ENST00000470094.1:c.715C>A | ||
| ENST00000533776.1:n.220C>A | ||
| ENST00000544455.5:c.9632C>A | ENSP00000439902.1:p.Thr3211Lys | |
| NM_000059.3:c.9632C>A , LRG_293t1:c.9632C>A | NP_000050.2:p.Thr3211Lys | |
| XM_011535203.1:c.9632C>A | XP_011533505.1:p.Thr3211Lys | |
| XM_011535204.1:c.9536C>A | XP_011533506.1:p.Thr3179Lys | |
| NM_000059.4:c.9632C>A MANE Select | NP_000050.3:p.Thr3211Lys |