Linked Data
ClinVar Variation Id:
2853025
ClinVar RCV Id:
RCV003695853
MyVariant Identifiers:
chr3:g.48605953T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48568520T>C , CM000665.2:g.48568520T>C | GRCh38 |
| NC_000003.11:g.48605953T>C , CM000665.1:g.48605953T>C | GRCh37 |
| NC_000003.10:g.48580957T>C | NCBI36 |
| NG_007065.1:g.31733A>G , LRG_286:g.31733A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.7773A>G MANE Select | ENSP00000506558.1:p.Ala2591= | |
| ENST00000328333.12:c.7773A>G | ENSP00000332371.8:p.Ala2591= | |
| ENST00000459756.5:n.596A>G | ||
| ENST00000467985.1:n.619A>G | ||
| ENST00000487017.5:n.4412A>G | ||
| NM_000094.3:c.7773A>G , LRG_286t1:c.7773A>G | NP_000085.1:p.Ala2591= | |
| XM_011533336.1:c.7800A>G | XP_011531638.1:p.Ala2600= | |
| XM_011533337.1:c.7773A>G | XP_011531639.1:p.Ala2591= | |
| XM_011533338.1:c.7740A>G | XP_011531640.1:p.Ala2580= | |
| XM_011533339.1:c.7800A>G | XP_011531641.1:p.Ala2600= | |
| XR_940369.1:n.7836A>G | ||
| XR_940370.1:n.7836A>G | ||
| XR_940371.1:n.7836A>G | ||
| XR_940372.1:n.7810A>G | ||
| XM_017005688.1:c.7713A>G | XP_016861177.1:p.Ala2571= | |
| XM_017005689.1:c.7773A>G | XP_016861178.1:p.Ala2591= | |
| XR_001740003.1:n.7809A>G | ||
| XR_001740004.1:n.7809A>G | ||
| XR_001740005.1:n.7809A>G | ||
| XR_001740006.1:n.7783A>G | ||
| NM_000094.4:c.7773A>G MANE Select | NP_000085.1:p.Ala2591= |