Linked Data
ClinVar Variation Id:
2757441
ClinVar RCV Id:
RCV003567243
MyVariant Identifiers:
chr11:g.89018115A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284947A>G , CM000673.2:g.89284947A>G | GRCh38 |
| NC_000011.9:g.89018115A>G , CM000673.1:g.89018115A>G | GRCh37 |
| NC_000011.8:g.88657763A>G | NCBI36 |
| NG_008748.1:g.112076A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1359A>G MANE Select | ENSP00000263321.4:p.Gln453= | |
| ENST00000263321.5:c.1359A>G | ENSP00000263321.4:p.Gln453= | |
| ENST00000528243.1:n.357A>G | ||
| NM_000372.4:c.1359A>G | NP_000363.1:p.Gln453= | |
| XM_011542970.1:c.1359A>G | XP_011541272.1:p.Gln453= | |
| XM_011542970.2:c.1359A>G | XP_011541272.1:p.Gln453= | |
| XR_001748321.1:n.2456+1087T>C | ||
| XR_001748322.1:n.2457+1087T>C | ||
| NM_000372.5:c.1359A>G MANE Select | NP_000363.1:p.Gln453= |