Linked Data
ClinVar Variation Id:
4768
ClinVar RCV Id:
RCV000005034
dbSNP Id:
rs137852983
gnomAD v4:
2-144389740-T-C
PubMed:
PMID:16688751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389740T>C , CM000664.2:g.144389740T>C | GRCh38 |
| NC_000002.11:g.145147307T>C , CM000664.1:g.145147307T>C | GRCh37 |
| NC_000002.10:g.144863777T>C | NCBI36 |
| NG_016431.1:g.135652A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3205A>G | ENSP00000508434.1:n.*3205A>G | |
| ENST00000440875.6:c.2579A>G | ENSP00000475553.3:p.Gln860Arg | |
| ENST00000627532.3:c.3356A>G MANE Select | ENSP00000487174.1:p.Gln1119Arg | |
| ENST00000636026.2:c.3244A>G | ENSP00000490776.1:p.Arg1082Gly | |
| ENST00000636179.1:n.3325A>G | ||
| ENST00000636413.1:c.3020A>G | ENSP00000490508.1:p.Gln1007Arg | |
| ENST00000636471.1:c.3431A>G | ENSP00000490317.1:p.Gln1144Arg | |
| ENST00000636732.2:c.*3073A>G | ENSP00000490175.1:n.*3073A>G | |
| ENST00000636820.1:n.3456A>G | ||
| ENST00000637045.1:c.3020A>G | ENSP00000490141.1:p.Gln1007Arg | |
| ENST00000637304.1:c.3020A>G | ENSP00000490872.1:p.Gln1007Arg | |
| ENST00000638007.1:c.3020A>G | ENSP00000490723.1:p.Gln1007Arg | |
| ENST00000638087.1:c.3020A>G | ENSP00000490673.1:p.Gln1007Arg | |
| ENST00000638128.1:c.2579A>G | ENSP00000490934.1:p.Gln860Arg | |
| ENST00000639389.1:c.151+6672A>G | ENSP00000492572.1:n.151+6672A>G | |
| ENST00000647488.1:c.576A>G | ENSP00000494820.1:n.576A>G | |
| ENST00000675069.1:c.887A>G | ENSP00000502467.1:p.Gln296Arg | |
| ENST00000303660.8:c.3353A>G | ENSP00000302501.4:p.Gln1118Arg | |
| ENST00000409487.7:c.3356A>G | ENSP00000386854.2:p.Gln1119Arg | |
| ENST00000419938.5:c.656-858A>G | ENSP00000394777.2:n.656-858A>G | |
| ENST00000539609.7:c.3284A>G | ENSP00000443792.2:p.Gln1095Arg | |
| ENST00000558170.6:c.3356A>G | ENSP00000454157.1:p.Gln1119Arg | |
| ENST00000627532.2:c.3356A>G | ENSP00000487174.1:p.Gln1119Arg | |
| NM_001171653.1:c.3284A>G | NP_001165124.1:p.Gln1095Arg | |
| NM_014795.3:c.3356A>G | NP_055610.1:p.Gln1119Arg | |
| XM_006712881.2:c.3356A>G | XP_006712944.1:p.Gln1119Arg | |
| XM_006712882.2:c.3356A>G | XP_006712945.1:p.Gln1119Arg | |
| XM_011512231.1:c.3347A>G | XP_011510533.1:p.Gln1116Arg | |
| XM_011512232.1:c.3335A>G | XP_011510534.1:p.Gln1112Arg | |
| NM_014795.4:c.3356A>G MANE Select | NP_055610.1:p.Gln1119Arg | |
| NM_001171653.2:c.3284A>G | NP_001165124.1:p.Gln1095Arg |