Linked Data
ClinVar Variation Id:
236933
dbSNP Id:
rs768210077
ExAC:
13:32972375 C / T
gnomAD v2:
13-32972375-C-T
gnomAD v4:
13-32398238-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398238C>T , CM000675.2:g.32398238C>T | GRCh38 |
| NC_000013.10:g.32972375C>T , CM000675.1:g.32972375C>T | GRCh37 |
| NC_000013.9:g.31870375C>T | NCBI36 |
| NG_012772.3:g.87759C>T , LRG_293:g.87759C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*248C>T | ENSP00000434898.2:n.*248C>T | |
| ENST00000528762.2:c.*1092C>T | ENSP00000433168.2:n.*1092C>T | |
| ENST00000530893.7:c.9356C>T | ENSP00000499438.2:p.Thr3119Ile | |
| ENST00000665585.2:c.*1287C>T | ENSP00000499570.2:n.*1287C>T | |
| ENST00000700202.2:c.9674C>T | ENSP00000514856.2:p.Thr3225Ile | |
| ENST00000700202.1:c.2141C>T | ENSP00000514856.1:p.Thr714Ile | |
| ENST00000700203.1:n.1852C>T | ||
| ENST00000380152.8:c.9725C>T MANE Select | ENSP00000369497.3:p.Thr3242Ile | |
| ENST00000544455.6:c.9725C>T | ENSP00000439902.1:p.Thr3242Ile | |
| ENST00000614259.2:c.9733C>T | ENSP00000506251.1:n.9733C>T | |
| ENST00000680887.1:c.9725C>T | ENSP00000505508.1:p.Thr3242Ile | |
| ENST00000380152.7:c.9725C>T | ENSP00000369497.3:p.Thr3242Ile | |
| ENST00000470094.1:c.808C>T | ||
| ENST00000533776.1:n.313C>T | ||
| ENST00000544455.5:c.9725C>T | ENSP00000439902.1:p.Thr3242Ile | |
| NM_000059.3:c.9725C>T , LRG_293t1:c.9725C>T | NP_000050.2:p.Thr3242Ile | |
| XM_011535203.1:c.9725C>T | XP_011533505.1:p.Thr3242Ile | |
| XM_011535204.1:c.9629C>T | XP_011533506.1:p.Thr3210Ile | |
| NM_000059.4:c.9725C>T MANE Select | NP_000050.3:p.Thr3242Ile |