Linked Data
ClinVar Variation Id:
580028
ClinVar RCV Id:
RCV000703455
dbSNP Id:
rs1408659659
gnomAD v2:
2-145155980-C-T
gnomAD v3:
2-144398413-C-T
gnomAD v4:
2-144398413-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398413C>T , CM000664.2:g.144398413C>T | GRCh38 |
| NC_000002.11:g.145155980C>T , CM000664.1:g.145155980C>T | GRCh37 |
| NC_000002.10:g.144872450C>T | NCBI36 |
| NG_016431.1:g.126979G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2623G>A | ENSP00000508434.1:n.*2623G>A | |
| ENST00000440875.6:c.1997G>A | ENSP00000475553.3:p.Gly666Glu | |
| ENST00000627532.3:c.2774G>A MANE Select | ENSP00000487174.1:p.Gly925Glu | |
| ENST00000636026.2:c.2774G>A | ENSP00000490776.1:p.Gly925Glu | |
| ENST00000636179.1:n.2743G>A | ||
| ENST00000636413.1:c.2438G>A | ENSP00000490508.1:p.Gly813Glu | |
| ENST00000636471.1:c.2849G>A | ENSP00000490317.1:p.Gly950Glu | |
| ENST00000636732.2:c.*2491G>A | ENSP00000490175.1:n.*2491G>A | |
| ENST00000636820.1:n.2874G>A | ||
| ENST00000637045.1:c.2438G>A | ENSP00000490141.1:p.Gly813Glu | |
| ENST00000637304.1:c.2438G>A | ENSP00000490872.1:p.Gly813Glu | |
| ENST00000638007.1:c.2438G>A | ENSP00000490723.1:p.Gly813Glu | |
| ENST00000638087.1:c.2438G>A | ENSP00000490673.1:p.Gly813Glu | |
| ENST00000638128.1:c.1997G>A | ENSP00000490934.1:p.Gly666Glu | |
| ENST00000675069.1:c.305G>A | ENSP00000502467.1:p.Gly102Glu | |
| ENST00000303660.8:c.2771G>A | ENSP00000302501.4:p.Gly924Glu | |
| ENST00000409487.7:c.2774G>A | ENSP00000386854.2:p.Gly925Glu | |
| ENST00000419938.5:c.655+2786G>A | ENSP00000394777.2:n.655+2786G>A | |
| ENST00000440875.5:c.1168-485G>A | ENSP00000475553.2:n.1168-485G>A | |
| ENST00000539609.7:c.2702G>A | ENSP00000443792.2:p.Gly901Glu | |
| ENST00000558170.6:c.2774G>A | ENSP00000454157.1:p.Gly925Glu | |
| ENST00000627532.2:c.2774G>A | ENSP00000487174.1:p.Gly925Glu | |
| NM_001171653.1:c.2702G>A | NP_001165124.1:p.Gly901Glu | |
| NM_014795.3:c.2774G>A | NP_055610.1:p.Gly925Glu | |
| XM_006712881.2:c.2774G>A | XP_006712944.1:p.Gly925Glu | |
| XM_006712882.2:c.2774G>A | XP_006712945.1:p.Gly925Glu | |
| XM_011512231.1:c.2765G>A | XP_011510533.1:p.Gly922Glu | |
| XM_011512232.1:c.2753G>A | XP_011510534.1:p.Gly918Glu | |
| NM_014795.4:c.2774G>A MANE Select | NP_055610.1:p.Gly925Glu | |
| NM_001171653.2:c.2702G>A | NP_001165124.1:p.Gly901Glu |