Linked Data
ClinVar Variation Id:
833740
ClinVar RCV Id:
RCV001034228
dbSNP Id:
rs1206387289
gnomAD v2:
2-145155930-C-T
gnomAD v4:
2-144398363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398363C>T , CM000664.2:g.144398363C>T | GRCh38 |
| NC_000002.11:g.145155930C>T , CM000664.1:g.145155930C>T | GRCh37 |
| NC_000002.10:g.144872400C>T | NCBI36 |
| NG_016431.1:g.127029G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2673G>A | ENSP00000508434.1:n.*2673G>A | |
| ENST00000440875.6:c.2047G>A | ENSP00000475553.3:p.Gly683Arg | |
| ENST00000627532.3:c.2824G>A MANE Select | ENSP00000487174.1:p.Gly942Arg | |
| ENST00000636026.2:c.2824G>A | ENSP00000490776.1:p.Gly942Arg | |
| ENST00000636179.1:n.2793G>A | ||
| ENST00000636413.1:c.2488G>A | ENSP00000490508.1:p.Gly830Arg | |
| ENST00000636471.1:c.2899G>A | ENSP00000490317.1:p.Gly967Arg | |
| ENST00000636732.2:c.*2541G>A | ENSP00000490175.1:n.*2541G>A | |
| ENST00000636820.1:n.2924G>A | ||
| ENST00000637045.1:c.2488G>A | ENSP00000490141.1:p.Gly830Arg | |
| ENST00000637304.1:c.2488G>A | ENSP00000490872.1:p.Gly830Arg | |
| ENST00000638007.1:c.2488G>A | ENSP00000490723.1:p.Gly830Arg | |
| ENST00000638087.1:c.2488G>A | ENSP00000490673.1:p.Gly830Arg | |
| ENST00000638128.1:c.2047G>A | ENSP00000490934.1:p.Gly683Arg | |
| ENST00000675069.1:c.355G>A | ENSP00000502467.1:p.Gly119Arg | |
| ENST00000303660.8:c.2821G>A | ENSP00000302501.4:p.Gly941Arg | |
| ENST00000409487.7:c.2824G>A | ENSP00000386854.2:p.Gly942Arg | |
| ENST00000419938.5:c.655+2836G>A | ENSP00000394777.2:n.655+2836G>A | |
| ENST00000440875.5:c.1168-435G>A | ENSP00000475553.2:n.1168-435G>A | |
| ENST00000539609.7:c.2752G>A | ENSP00000443792.2:p.Gly918Arg | |
| ENST00000558170.6:c.2824G>A | ENSP00000454157.1:p.Gly942Arg | |
| ENST00000627532.2:c.2824G>A | ENSP00000487174.1:p.Gly942Arg | |
| NM_001171653.1:c.2752G>A | NP_001165124.1:p.Gly918Arg | |
| NM_014795.3:c.2824G>A | NP_055610.1:p.Gly942Arg | |
| XM_006712881.2:c.2824G>A | XP_006712944.1:p.Gly942Arg | |
| XM_006712882.2:c.2824G>A | XP_006712945.1:p.Gly942Arg | |
| XM_011512231.1:c.2815G>A | XP_011510533.1:p.Gly939Arg | |
| XM_011512232.1:c.2803G>A | XP_011510534.1:p.Gly935Arg | |
| NM_014795.4:c.2824G>A MANE Select | NP_055610.1:p.Gly942Arg | |
| NM_001171653.2:c.2752G>A | NP_001165124.1:p.Gly918Arg |