Linked Data
ClinVar Variation Id:
51053
dbSNP Id:
rs55853199
ExAC:
13:32972852 C / T
gnomAD v2:
13-32972852-C-T
gnomAD v3:
13-32398715-C-T
gnomAD v4:
13-32398715-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398715C>T , CM000675.2:g.32398715C>T | GRCh38 |
| NC_000013.10:g.32972852C>T , CM000675.1:g.32972852C>T | GRCh37 |
| NC_000013.9:g.31870852C>T | NCBI36 |
| NG_012772.3:g.88236C>T , LRG_293:g.88236C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*725C>T | ENSP00000434898.2:n.*725C>T | |
| ENST00000528762.2:c.*1569C>T | ENSP00000433168.2:n.*1569C>T | |
| ENST00000530893.7:c.9833C>T | ENSP00000499438.2:p.Thr3278Met | |
| ENST00000665585.2:c.*1764C>T | ENSP00000499570.2:n.*1764C>T | |
| ENST00000700202.2:c.10151C>T | ENSP00000514856.2:p.Thr3384Met | |
| ENST00000700202.1:c.2618C>T | ENSP00000514856.1:p.Thr873Met | |
| ENST00000700203.1:n.2329C>T | ||
| ENST00000380152.8:c.10202C>T MANE Select | ENSP00000369497.3:p.Thr3401Met | |
| ENST00000544455.6:c.10202C>T | ENSP00000439902.1:p.Thr3401Met | |
| ENST00000614259.2:c.10210C>T | ENSP00000506251.1:n.10210C>T | |
| ENST00000680887.1:c.10202C>T | ENSP00000505508.1:p.Thr3401Met | |
| ENST00000380152.7:c.10202C>T | ENSP00000369497.3:p.Thr3401Met | |
| ENST00000544455.5:c.10202C>T | ENSP00000439902.1:p.Thr3401Met | |
| NM_000059.3:c.10202C>T , LRG_293t1:c.10202C>T | NP_000050.2:p.Thr3401Met | |
| XM_011535203.1:c.10202C>T | XP_011533505.1:p.Thr3401Met | |
| XM_011535204.1:c.10106C>T | XP_011533506.1:p.Thr3369Met | |
| NM_000059.4:c.10202C>T MANE Select | NP_000050.3:p.Thr3401Met |