Linked Data
ClinVar Variation Id:
464386
ClinVar RCV Id:
RCV000535298
dbSNP Id:
rs763175161
ExAC:
4:83350530 G / A
gnomAD v2:
4-83350530-G-A
gnomAD v3:
4-82429377-G-A
gnomAD v4:
4-82429377-G-A
COSMIC:
COSM3373586
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.82429377G>A , CM000666.2:g.82429377G>A | GRCh38 |
| NC_000004.11:g.83350530G>A , CM000666.1:g.83350530G>A | GRCh37 |
| NC_000004.10:g.83569554G>A | NCBI36 |
| NG_029681.1:g.5849C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295470.10:c.314C>T MANE Select | ENSP00000295470.5:p.Thr105Ile | |
| ENST00000295470.9:c.314C>T | ENSP00000295470.5:p.Thr105Ile | |
| ENST00000349655.8:c.-44C>T | ENSP00000338552.5:n.-44C>T | |
| ENST00000502762.4:c.314C>T | ENSP00000422040.1:p.Thr105Ile | |
| ENST00000507721.5:c.-44C>T | ENSP00000480156.1:n.-44C>T | |
| ENST00000514511.1:c.-44C>T | ENSP00000478269.1:n.-44C>T | |
| ENST00000602300.5:c.-44C>T | ENSP00000473677.1:n.-44C>T | |
| ENST00000614627.4:c.314C>T | ENSP00000478723.1:p.Thr105Ile | |
| ENST00000621267.4:c.314C>T | ENSP00000483254.1:p.Thr105Ile | |
| ENST00000630114.2:c.-44C>T | ENSP00000486452.1:n.-44C>T | |
| ENST00000630827.1:c.-44C>T | ENSP00000485954.1:n.-44C>T | |
| NM_001207000.1:c.314C>T | NP_001193929.1:p.Thr105Ile | |
| NM_031372.3:c.314C>T | NP_112740.1:p.Thr105Ile | |
| NR_003249.2:n.849C>T | ||
| NM_031372.4:c.314C>T MANE Select | NP_112740.1:p.Thr105Ile |