Linked Data
ClinVar Variation Id:
2824551
ClinVar RCV Id:
RCV003678274
MyVariant Identifiers:
chr12:g.48371404T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47977621T>C , CM000674.2:g.47977621T>C | GRCh38 |
| NC_000012.11:g.48371404T>C , CM000674.1:g.48371404T>C | GRCh37 |
| NC_000012.10:g.46657671T>C | NCBI36 |
| NG_008072.1:g.31882A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.2937A>G | ENSP00000338213.6:p.Arg979= | |
| ENST00000380518.8:c.3144A>G MANE Select | ENSP00000369889.3:p.Arg1048= | |
| ENST00000337299.6:c.2937A>G | ENSP00000338213.6:p.Arg979= | |
| ENST00000380518.7:c.3144A>G | ENSP00000369889.3:p.Arg1048= | |
| ENST00000493991.5:n.2230A>G | ||
| NM_001844.4:c.3144A>G | NP_001835.3:p.Arg1048= | |
| NM_033150.2:c.2937A>G | NP_149162.2:p.Arg979= | |
| XM_006719242.2:c.3288A>G | XP_006719305.2:p.Arg1096= | |
| XM_011537928.1:c.3288A>G | XP_011536230.1:p.Arg1096= | |
| XM_011537929.1:c.3288A>G | XP_011536231.1:p.Arg1096= | |
| XM_011537930.1:c.3288A>G | XP_011536232.1:p.Arg1096= | |
| XM_011537931.1:c.3288A>G | XP_011536233.1:p.Arg1096= | |
| XM_011537932.1:c.3288A>G | XP_011536234.1:p.Arg1096= | |
| XM_011537933.1:c.3288A>G | XP_011536235.1:p.Arg1096= | |
| XM_011537934.1:c.3285A>G | XP_011536236.1:p.Arg1095= | |
| XM_011537935.1:c.2232A>G | XP_011536237.1:p.Arg744= | |
| XM_017018828.1:c.3288A>G | XP_016874317.1:p.Arg1096= | |
| XM_017018829.1:c.3285A>G | XP_016874318.1:p.Arg1095= | |
| XM_017018830.1:c.3078A>G | XP_016874319.1:p.Arg1026= | |
| XM_017018831.2:c.2598A>G | XP_016874320.1:p.Arg866= | |
| NM_001844.5:c.3144A>G MANE Select | NP_001835.3:p.Arg1048= | |
| NM_033150.3:c.2937A>G | NP_149162.2:p.Arg979= |