Linked Data
ClinVar Variation Id:
1654770
ClinVar RCV Id:
RCV002156303
dbSNP Id:
rs1853033038
MyVariant Identifiers:
chr11:g.20649537T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.20627991T>C , CM000673.2:g.20627991T>C | GRCh38 |
| NC_000011.9:g.20649537T>C , CM000673.1:g.20649537T>C | GRCh37 |
| NC_000011.8:g.20606113T>C | NCBI36 |
| NG_013086.1:g.33592T>C | |
| NG_013086.2:g.33592T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525748.6:c.1407T>C MANE Select | ENSP00000434364.2:p.Asp469= | |
| ENST00000298923.11:c.*704T>C | ENSP00000298923.7:n.*704T>C | |
| ENST00000525748.5:c.1407T>C | ENSP00000434364.1:p.Asp469= | |
| NM_004211.3:c.1407T>C | NP_004202.2:p.Asp469= | |
| XM_005253225.1:c.705T>C | XP_005253282.1:p.Asp235= | |
| XM_011520473.1:c.1407T>C | XP_011518775.1:p.Asp469= | |
| NM_001318369.1:c.705T>C | NP_001305298.1:p.Asp235= | |
| NM_004211.4:c.1407T>C | NP_004202.3:p.Asp469= | |
| XM_017018544.2:c.531T>C | XP_016874033.1:p.Asp177= | |
| XM_017018545.2:c.366T>C | XP_016874034.1:p.Asp122= | |
| NM_001318369.2:c.705T>C | NP_001305298.1:p.Asp235= | |
| NM_004211.5:c.1407T>C MANE Select | NP_004202.4:p.Asp469= |