Linked Data
ClinVar Variation Id:
161698
ClinVar RCV Id:
RCV000149234
dbSNP Id:
rs193920996
gnomAD v4:
3-161235138-C-T
COSMIC:
COSM1178791
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.161235138C>T , CM000665.2:g.161235138C>T | GRCh38 |
| NC_000003.11:g.160952926C>T , CM000665.1:g.160952926C>T | GRCh37 |
| NC_000003.10:g.162435620C>T | NCBI36 |
| NG_047147.1:g.18877C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351193.7:c.503C>T MANE Select | ENSP00000307525.2:p.Thr168Ile | |
| ENST00000351193.6:c.503C>T | ENSP00000307525.2:p.Thr168Ile | |
| ENST00000460469.1:c.503C>T | ENSP00000419004.1:p.Thr168Ile | |
| ENST00000463518.5:c.503C>T | ENSP00000418908.1:p.Thr168Ile | |
| ENST00000472947.5:c.503C>T | ENSP00000417559.1:p.Thr168Ile | |
| ENST00000478160.1:n.413C>T | ||
| ENST00000493066.5:c.503C>T | ENSP00000419030.1:p.Thr168Ile | |
| NM_015938.3:c.503C>T | NP_057022.2:p.Thr168Ile | |
| XM_005247511.1:c.503C>T | XP_005247568.1:p.Thr168Ile | |
| XM_005247512.1:c.503C>T | XP_005247569.1:p.Thr168Ile | |
| NM_001320227.1:c.503C>T | NP_001307156.1:p.Thr168Ile | |
| NM_015938.4:c.503C>T | NP_057022.2:p.Thr168Ile | |
| XM_005247511.2:c.503C>T | XP_005247568.1:p.Thr168Ile | |
| XR_001740166.2:n.640C>T | ||
| XR_001740167.2:n.563C>T | ||
| NM_001320227.2:c.503C>T | NP_001307156.1:p.Thr168Ile | |
| NM_015938.5:c.503C>T MANE Select | NP_057022.2:p.Thr168Ile |