Linked Data
ClinVar Variation Id:
572414
ClinVar RCV Id:
RCV000693787
dbSNP Id:
rs756424812
ExAC:
2:145147125 G / C
gnomAD v2:
2-145147125-G-C
gnomAD v3:
2-144389558-G-C
gnomAD v4:
2-144389558-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.144389558G>C , CM000664.2:g.144389558G>C | GRCh38 |
| NC_000002.11:g.145147125G>C , CM000664.1:g.145147125G>C | GRCh37 |
| NC_000002.10:g.144863595G>C | NCBI36 |
| NG_016431.1:g.135834C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689298.1:c.*3387C>G | ENSP00000508434.1:n.*3387C>G | |
| ENST00000440875.6:c.2761C>G | ENSP00000475553.3:p.Arg921Gly | |
| ENST00000627532.3:c.3538C>G MANE Select | ENSP00000487174.1:p.Arg1180Gly | |
| ENST00000636026.2:c.3426C>G | ENSP00000490776.1:p.Tyr1142Ter | |
| ENST00000636179.1:n.3507C>G | ||
| ENST00000636413.1:c.3202C>G | ENSP00000490508.1:p.Arg1068Gly | |
| ENST00000636471.1:c.3613C>G | ENSP00000490317.1:p.Arg1205Gly | |
| ENST00000636732.2:c.*3255C>G | ENSP00000490175.1:n.*3255C>G | |
| ENST00000636820.1:n.3638C>G | ||
| ENST00000637045.1:c.3202C>G | ENSP00000490141.1:p.Arg1068Gly | |
| ENST00000637304.1:c.3202C>G | ENSP00000490872.1:p.Arg1068Gly | |
| ENST00000638007.1:c.3202C>G | ENSP00000490723.1:p.Arg1068Gly | |
| ENST00000638087.1:c.3202C>G | ENSP00000490673.1:p.Arg1068Gly | |
| ENST00000638128.1:c.2761C>G | ENSP00000490934.1:p.Arg921Gly | |
| ENST00000639389.1:c.151+6854C>G | ENSP00000492572.1:n.151+6854C>G | |
| ENST00000647488.1:c.758C>G | ENSP00000494820.1:n.758C>G | |
| ENST00000675069.1:c.1069C>G | ENSP00000502467.1:p.Arg357Gly | |
| ENST00000303660.8:c.3535C>G | ENSP00000302501.4:p.Arg1179Gly | |
| ENST00000409487.7:c.3538C>G | ENSP00000386854.2:p.Arg1180Gly | |
| ENST00000419938.5:c.656-676C>G | ENSP00000394777.2:n.656-676C>G | |
| ENST00000539609.7:c.3466C>G | ENSP00000443792.2:p.Arg1156Gly | |
| ENST00000558170.6:c.3538C>G | ENSP00000454157.1:p.Arg1180Gly | |
| ENST00000627532.2:c.3538C>G | ENSP00000487174.1:p.Arg1180Gly | |
| NM_001171653.1:c.3466C>G | NP_001165124.1:p.Arg1156Gly | |
| NM_014795.3:c.3538C>G | NP_055610.1:p.Arg1180Gly | |
| XM_006712881.2:c.3538C>G | XP_006712944.1:p.Arg1180Gly | |
| XM_006712882.2:c.3538C>G | XP_006712945.1:p.Arg1180Gly | |
| XM_011512231.1:c.3529C>G | XP_011510533.1:p.Arg1177Gly | |
| XM_011512232.1:c.3517C>G | XP_011510534.1:p.Arg1173Gly | |
| NM_014795.4:c.3538C>G MANE Select | NP_055610.1:p.Arg1180Gly | |
| NM_001171653.2:c.3466C>G | NP_001165124.1:p.Arg1156Gly |