Linked Data
ClinVar Variation Id:
2811497
ClinVar RCV Id:
RCV003682931
MyVariant Identifiers:
chr3:g.14199523T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14158023T>C , CM000665.2:g.14158023T>C | GRCh38 |
| NC_000003.11:g.14199523T>C , CM000665.1:g.14199523T>C | GRCh37 |
| NC_000003.10:g.14174525T>C | NCBI36 |
| NG_011763.1:g.25650A>G , LRG_472:g.25650A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.1860A>G MANE Select | ENSP00000285021.8:p.Lys620= | |
| ENST00000285021.11:c.1860A>G | ENSP00000285021.7:p.Lys620= | |
| ENST00000476581.6:c.*1313A>G | ENSP00000424548.1:n.*1313A>G | |
| NM_004628.4:c.1860A>G , LRG_472t1:c.1860A>G | NP_004619.3:p.Lys620= | |
| NR_027299.1:n.1840A>G | ||
| XM_011534092.1:c.1860A>G | XP_011532394.1:p.Lys620= | |
| XM_011534093.1:c.1860A>G | XP_011532395.1:p.Lys620= | |
| NM_001354726.1:c.1281A>G | NP_001341655.1:p.Lys427= | |
| NM_001354727.1:c.1860A>G | NP_001341656.1:p.Lys620= | |
| NM_001354729.1:c.1842A>G | NP_001341658.1:p.Lys614= | |
| NM_001354730.1:c.1626+234A>G | NP_001341659.1:n.1626+234A>G | |
| NR_148950.1:n.1964A>G | ||
| NR_148951.1:n.1840A>G | ||
| XR_001740256.2:n.1893A>G | ||
| XR_002959580.1:n.1893A>G | ||
| XR_002959581.1:n.1893A>G | ||
| NM_001354727.2:c.1860A>G | NP_001341656.1:p.Lys620= | |
| NM_004628.5:c.1860A>G MANE Select | NP_004619.3:p.Lys620= | |
| NR_148950.2:n.1893A>G | ||
| NR_148951.2:n.1769A>G | ||
| NM_001354726.2:c.1281A>G | NP_001341655.1:p.Lys427= | |
| NM_001354729.2:c.1842A>G | NP_001341658.1:p.Lys614= | |
| NM_001354730.2:c.1626+234A>G | NP_001341659.1:n.1626+234A>G |