Linked Data
ClinVar Variation Id:
161821
ClinVar RCV Id:
RCV000149357
dbSNP Id:
rs144043787
ExAC:
10:95660576 G / A
gnomAD v2:
10-95660576-G-A
gnomAD v3:
10-93900819-G-A
gnomAD v4:
10-93900819-G-A
COSMIC:
COSM1179891
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93900819G>A , CM000672.2:g.93900819G>A | GRCh38 |
| NC_000010.10:g.95660576G>A , CM000672.1:g.95660576G>A | GRCh37 |
| NC_000010.9:g.95650566G>A | NCBI36 |
| NG_051626.1:g.11850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427197.2:c.427G>A MANE Select | ENSP00000400932.1:p.Ala143Thr | |
| ENST00000371408.7:c.424G>A | ENSP00000360462.3:p.Ala142Thr | |
| ENST00000427197.1:c.427G>A | ENSP00000400932.1:p.Ala143Thr | |
| ENST00000483386.5:c.128-5433G>A | ENSP00000473766.1:n.128-5433G>A | |
| ENST00000494992.5:c.179-5433G>A | ENSP00000474294.1:n.179-5433G>A | |
| ENST00000603665.1:c.179-5433G>A | ENSP00000473862.1:n.179-5433G>A | |
| ENST00000605679.5:c.179-5433G>A | ENSP00000474890.1:n.179-5433G>A | |
| NM_001134658.1:c.427G>A | NP_001128130.1:p.Ala143Thr | |
| NM_153226.2:c.424G>A | NP_694958.1:p.Ala142Thr | |
| XM_011539371.1:c.376G>A | XP_011537673.1:p.Ala126Thr | |
| XM_011539372.1:c.262G>A | XP_011537674.1:p.Ala88Thr | |
| XM_011539373.1:c.359+2068G>A | XP_011537675.1:n.359+2068G>A | |
| XM_011539374.1:c.359+2068G>A | XP_011537676.1:n.359+2068G>A | |
| NM_001134658.2:c.427G>A | NP_001128130.1:p.Ala143Thr | |
| NM_001345993.1:c.376G>A | NP_001332922.1:p.Ala126Thr | |
| NM_153226.3:c.424G>A | NP_694958.1:p.Ala142Thr | |
| NR_144335.1:n.192-5433G>A | ||
| NR_144336.1:n.243-5433G>A | ||
| NR_144337.1:n.243-5433G>A | ||
| XM_011539373.3:c.359+2068G>A | XP_011537675.1:n.359+2068G>A | |
| NM_001134658.3:c.427G>A MANE Select | NP_001128130.1:p.Ala143Thr | |
| NM_001345993.2:c.376G>A | NP_001332922.1:p.Ala126Thr | |
| NM_153226.4:c.424G>A | NP_694958.1:p.Ala142Thr | |
| NR_144335.2:n.184-5433G>A | ||
| NR_144336.2:n.235-5433G>A | ||
| NR_144337.2:n.235-5433G>A |