Linked Data
ClinVar Variation Id:
1587411
ClinVar RCV Id:
RCV002116755
dbSNP Id:
rs759817961
ExAC:
2:145155970 C / T
gnomAD v2:
2-145155970-C-T
gnomAD v3:
2-144398403-C-T
gnomAD v4:
2-144398403-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144398403C>T , CM000664.2:g.144398403C>T | GRCh38 |
| NC_000002.11:g.145155970C>T , CM000664.1:g.145155970C>T | GRCh37 |
| NC_000002.10:g.144872440C>T | NCBI36 |
| NG_016431.1:g.126989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*2633G>A | ENSP00000508434.1:n.*2633G>A | |
| ENST00000440875.6:c.2007G>A | ENSP00000475553.3:p.Gln669= | |
| ENST00000627532.3:c.2784G>A MANE Select | ENSP00000487174.1:p.Gln928= | |
| ENST00000636026.2:c.2784G>A | ENSP00000490776.1:p.Gln928= | |
| ENST00000636179.1:n.2753G>A | ||
| ENST00000636413.1:c.2448G>A | ENSP00000490508.1:p.Gln816= | |
| ENST00000636471.1:c.2859G>A | ENSP00000490317.1:p.Gln953= | |
| ENST00000636732.2:c.*2501G>A | ENSP00000490175.1:n.*2501G>A | |
| ENST00000636820.1:n.2884G>A | ||
| ENST00000637045.1:c.2448G>A | ENSP00000490141.1:p.Gln816= | |
| ENST00000637304.1:c.2448G>A | ENSP00000490872.1:p.Gln816= | |
| ENST00000638007.1:c.2448G>A | ENSP00000490723.1:p.Gln816= | |
| ENST00000638087.1:c.2448G>A | ENSP00000490673.1:p.Gln816= | |
| ENST00000638128.1:c.2007G>A | ENSP00000490934.1:p.Gln669= | |
| ENST00000675069.1:c.315G>A | ENSP00000502467.1:p.Gln105= | |
| ENST00000303660.8:c.2781G>A | ENSP00000302501.4:p.Gln927= | |
| ENST00000409487.7:c.2784G>A | ENSP00000386854.2:p.Gln928= | |
| ENST00000419938.5:c.655+2796G>A | ENSP00000394777.2:n.655+2796G>A | |
| ENST00000440875.5:c.1168-475G>A | ENSP00000475553.2:n.1168-475G>A | |
| ENST00000539609.7:c.2712G>A | ENSP00000443792.2:p.Gln904= | |
| ENST00000558170.6:c.2784G>A | ENSP00000454157.1:p.Gln928= | |
| ENST00000627532.2:c.2784G>A | ENSP00000487174.1:p.Gln928= | |
| NM_001171653.1:c.2712G>A | NP_001165124.1:p.Gln904= | |
| NM_014795.3:c.2784G>A | NP_055610.1:p.Gln928= | |
| XM_006712881.2:c.2784G>A | XP_006712944.1:p.Gln928= | |
| XM_006712882.2:c.2784G>A | XP_006712945.1:p.Gln928= | |
| XM_011512231.1:c.2775G>A | XP_011510533.1:p.Gln925= | |
| XM_011512232.1:c.2763G>A | XP_011510534.1:p.Gln921= | |
| NM_014795.4:c.2784G>A MANE Select | NP_055610.1:p.Gln928= | |
| NM_001171653.2:c.2712G>A | NP_001165124.1:p.Gln904= |