Linked Data
ClinVar Variation Id:
2753175
ClinVar RCV Id:
RCV003566756
MyVariant Identifiers:
chr3:g.48620473A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48583040A>C , CM000665.2:g.48583040A>C | GRCh38 |
| NC_000003.11:g.48620473A>C , CM000665.1:g.48620473A>C | GRCh37 |
| NC_000003.10:g.48595477A>C | NCBI36 |
| NG_007065.1:g.17213T>G , LRG_286:g.17213T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.4491T>G MANE Select | ENSP00000506558.1:p.Arg1497= | |
| ENST00000328333.12:c.4491T>G | ENSP00000332371.8:p.Arg1497= | |
| ENST00000487017.5:n.408T>G | ||
| NM_000094.3:c.4491T>G , LRG_286t1:c.4491T>G | NP_000085.1:p.Arg1497= | |
| XM_011533336.1:c.4518T>G | XP_011531638.1:p.Arg1506= | |
| XM_011533337.1:c.4491T>G | XP_011531639.1:p.Arg1497= | |
| XM_011533338.1:c.4518T>G | XP_011531640.1:p.Arg1506= | |
| XM_011533339.1:c.4518T>G | XP_011531641.1:p.Arg1506= | |
| XM_011533340.1:c.4518T>G | XP_011531642.1:p.Arg1506= | |
| XM_011533341.1:c.4518T>G | XP_011531643.1:p.Arg1506= | |
| XM_011533342.1:c.4518T>G | XP_011531644.1:p.Arg1506= | |
| XR_940369.1:n.4554T>G | ||
| XR_940370.1:n.4554T>G | ||
| XR_940371.1:n.4554T>G | ||
| XR_940372.1:n.4554T>G | ||
| XR_940373.1:n.4554T>G | ||
| XR_940374.1:n.4554T>G | ||
| XR_940375.1:n.4554T>G | ||
| XM_017005688.1:c.4491T>G | XP_016861177.1:p.Arg1497= | |
| XM_017005689.1:c.4491T>G | XP_016861178.1:p.Arg1497= | |
| XM_017005690.1:c.4491T>G | XP_016861179.1:p.Arg1497= | |
| XM_017005691.1:c.4491T>G | XP_016861180.1:p.Arg1497= | |
| XM_017005692.1:c.4491T>G | XP_016861181.1:p.Arg1497= | |
| XR_001740003.1:n.4527T>G | ||
| XR_001740004.1:n.4527T>G | ||
| XR_001740005.1:n.4527T>G | ||
| XR_001740006.1:n.4527T>G | ||
| XR_001740007.1:n.4527T>G | ||
| XR_001740008.1:n.4527T>G | ||
| XR_001740009.1:n.4527T>G | ||
| NM_000094.4:c.4491T>G MANE Select | NP_000085.1:p.Arg1497= |