Linked Data
ClinVar Variation Id:
2693003
ClinVar RCV Id:
RCV003588945
MyVariant Identifiers:
chr20:g.62119732G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63488379G>C , CM000682.2:g.63488379G>C | GRCh38 |
| NC_000020.10:g.62119732G>C , CM000682.1:g.62119732G>C | GRCh37 |
| NC_000020.9:g.61590176G>C | NCBI36 |
| NG_034083.1:g.15937C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706948.1:c.1269C>G | ENSP00000516668.1:p.Val423= | |
| ENST00000706949.1:c.1311C>G | ENSP00000516669.1:p.Val437= | |
| ENST00000217182.6:c.1311C>G MANE Select | ENSP00000217182.3:p.Val437= | |
| ENST00000298049.12:c.1311C>G | ENSP00000298049.8:p.Val437= | |
| ENST00000675519.1:c.*1183C>G | ENSP00000501859.1:n.*1183C>G | |
| ENST00000217182.4:c.1311C>G | ENSP00000217182.3:p.Val437= | |
| ENST00000298049.11:c.1311C>G | ENSP00000298049.7:p.Val437= | |
| NM_001958.3:c.1311C>G | NP_001949.1:p.Val437= | |
| NM_001958.4:c.1311C>G | NP_001949.1:p.Val437= | |
| NM_001958.5:c.1311C>G MANE Select | NP_001949.1:p.Val437= |