Linked Data
ClinVar Variation Id:
437329
ClinVar RCV Id:
RCV000501245
dbSNP Id:
rs780017365
ExAC:
2:145162432 G / A
gnomAD v2:
2-145162432-G-A
gnomAD v3:
2-144404865-G-A
gnomAD v4:
2-144404865-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144404865G>A , CM000664.2:g.144404865G>A | GRCh38 |
| NC_000002.11:g.145162432G>A , CM000664.1:g.145162432G>A | GRCh37 |
| NC_000002.10:g.144878902G>A | NCBI36 |
| NG_016431.1:g.120527C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*412C>T | ENSP00000508434.1:n.*412C>T | |
| ENST00000440875.6:c.-215C>T | ENSP00000475553.3:n.-215C>T | |
| ENST00000627532.3:c.563C>T MANE Select | ENSP00000487174.1:p.Thr188Met | |
| ENST00000636026.2:c.563C>T | ENSP00000490776.1:p.Thr188Met | |
| ENST00000636179.1:n.532C>T | ||
| ENST00000636413.1:c.227C>T | ENSP00000490508.1:p.Thr76Met | |
| ENST00000636471.1:c.563C>T | ENSP00000490317.1:p.Thr188Met | |
| ENST00000636732.2:c.*280C>T | ENSP00000490175.1:n.*280C>T | |
| ENST00000636820.1:n.663C>T | ||
| ENST00000637045.1:c.227C>T | ENSP00000490141.1:p.Thr76Met | |
| ENST00000637267.2:c.563C>T | ENSP00000490293.2:p.Thr188Met | |
| ENST00000637304.1:c.227C>T | ENSP00000490872.1:p.Thr76Met | |
| ENST00000638007.1:c.227C>T | ENSP00000490723.1:p.Thr76Met | |
| ENST00000638087.1:c.227C>T | ENSP00000490673.1:p.Thr76Met | |
| ENST00000638128.1:c.-215C>T | ENSP00000490934.1:n.-215C>T | |
| ENST00000675069.1:c.-133-6015C>T | ENSP00000502467.1:n.-133-6015C>T | |
| ENST00000303660.8:c.560C>T | ENSP00000302501.4:p.Thr187Met | |
| ENST00000392861.6:c.647C>T | ENSP00000376601.3:p.Thr216Met | |
| ENST00000409487.7:c.563C>T | ENSP00000386854.2:p.Thr188Met | |
| ENST00000419938.5:c.332-735C>T | ENSP00000394777.2:n.332-735C>T | |
| ENST00000427902.5:c.650C>T | ENSP00000395496.2:p.Thr217Met | |
| ENST00000431672.4:c.491C>T | ENSP00000475267.2:p.Thr164Met | |
| ENST00000440875.5:c.548C>T | ENSP00000475553.2:p.Thr183Met | |
| ENST00000497268.1:n.509C>T | ||
| ENST00000539609.7:c.491C>T | ENSP00000443792.2:p.Thr164Met | |
| ENST00000558170.6:c.563C>T | ENSP00000454157.1:p.Thr188Met | |
| ENST00000627532.2:c.563C>T | ENSP00000487174.1:p.Thr188Met | |
| ENST00000627856.2:n.523C>T | ||
| NM_001171653.1:c.491C>T | NP_001165124.1:p.Thr164Met | |
| NM_014795.3:c.563C>T | NP_055610.1:p.Thr188Met | |
| XM_006712881.2:c.563C>T | XP_006712944.1:p.Thr188Met | |
| XM_006712882.2:c.563C>T | XP_006712945.1:p.Thr188Met | |
| XM_011512231.1:c.554C>T | XP_011510533.1:p.Thr185Met | |
| XM_011512232.1:c.542C>T | XP_011510534.1:p.Thr181Met | |
| NM_014795.4:c.563C>T MANE Select | NP_055610.1:p.Thr188Met | |
| NM_001171653.2:c.491C>T | NP_001165124.1:p.Thr164Met |