Linked Data
ClinVar Variation Id:
1539046
ClinVar RCV Id:
RCV002169516
dbSNP Id:
rs2133784380
MyVariant Identifiers:
chr11:g.17522692T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501145T>C , CM000673.2:g.17501145T>C | GRCh38 |
| NC_000011.9:g.17522692T>C , CM000673.1:g.17522692T>C | GRCh37 |
| NC_000011.8:g.17479268T>C | NCBI36 |
| NG_011883.1:g.48272A>G | |
| NG_011883.2:g.48272A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2286A>G MANE Select | ENSP00000005226.7:p.Gly762= | |
| ENST00000318024.9:c.1386A>G MANE Plus Clinical | ENSP00000317018.4:p.Gly462= | |
| ENST00000005226.11:c.2286A>G | ENSP00000005226.7:p.Gly762= | |
| ENST00000318024.8:c.1386A>G | ENSP00000317018.4:p.Gly462= | |
| ENST00000526313.5:c.*100A>G | ENSP00000432236.1:n.*100A>G | |
| ENST00000527020.5:c.1329A>G | ENSP00000436934.1:p.Gly443= | |
| ENST00000527720.5:c.1293A>G | ENSP00000432944.1:p.Gly431= | |
| ENST00000529563.5:n.270A>G | ||
| ENST00000534556.1:n.171A>G | ||
| NM_001297764.1:c.1329A>G | NP_001284693.1:p.Gly443= | |
| NM_005709.3:c.1386A>G | NP_005700.2:p.Gly462= | |
| NM_153676.3:c.2286A>G | NP_710142.1:p.Gly762= | |
| NR_123738.1:n.1421A>G | ||
| XM_011519831.1:c.2310A>G | XP_011518133.1:p.Gly770= | |
| XM_011519832.1:c.1539A>G | XP_011518134.1:p.Gly513= | |
| XM_011519833.1:c.1436A>G | XP_011518135.1:p.Asp479Gly | |
| XR_930841.1:n.1757A>G | ||
| XR_930842.1:n.1698A>G | ||
| XM_011519832.3:c.1539A>G | XP_011518134.1:p.Gly513= | |
| XM_017017075.1:c.2286A>G | XP_016872564.1:p.Gly762= | |
| XR_001747717.2:n.1545A>G | ||
| NM_153676.4:c.2286A>G MANE Select | NP_710142.1:p.Gly762= | |
| NM_001297764.2:c.1329A>G | NP_001284693.1:p.Gly443= | |
| NM_005709.4:c.1386A>G MANE Plus Clinical | NP_005700.2:p.Gly462= | |
| NR_123738.2:n.1421A>G |