Linked Data
ClinVar Variation Id:
257
ClinVar RCV Id:
RCV000000281
dbSNP Id:
rs794729655
PubMed:
PMID:9804340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14156333A>C , CM000665.2:g.14156333A>C | GRCh38 |
| NC_000003.11:g.14197833A>C , CM000665.1:g.14197833A>C | GRCh37 |
| NC_000003.10:g.14172834A>C | NCBI36 |
| NG_011763.1:g.27340T>G , LRG_472:g.27340T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2033+2T>G MANE Select | ENSP00000285021.8:n.2033+2T>G | |
| ENST00000285021.11:c.2033+2T>G | ENSP00000285021.7:n.2033+2T>G | |
| ENST00000476581.6:c.*1486+2T>G | ENSP00000424548.1:n.*1486+2T>G | |
| NM_004628.4:c.2033+2T>G , LRG_472t1:c.2033+2T>G | NP_004619.3:n.2033+2T>G | |
| NR_027299.1:n.2013+2T>G | ||
| XM_011534092.1:c.2033+2T>G | XP_011532394.1:n.2033+2T>G | |
| XM_011534093.1:c.2033+2T>G | XP_011532395.1:n.2033+2T>G | |
| NM_001354726.1:c.1454+2T>G | NP_001341655.1:n.1454+2T>G | |
| NM_001354727.1:c.1872+1678T>G | NP_001341656.1:n.1872+1678T>G | |
| NM_001354729.1:c.2015+2T>G | NP_001341658.1:n.2015+2T>G | |
| NM_001354730.1:c.1787+2T>G | NP_001341659.1:n.1787+2T>G | |
| NR_148950.1:n.1976+1678T>G | ||
| NR_148951.1:n.1852+1678T>G | ||
| XR_001740256.2:n.2066+2T>G | ||
| XR_002959580.1:n.2066+2T>G | ||
| XR_002959581.1:n.2066+2T>G | ||
| NM_001354727.2:c.1872+1678T>G | NP_001341656.1:n.1872+1678T>G | |
| NM_004628.5:c.2033+2T>G MANE Select | NP_004619.3:n.2033+2T>G | |
| NR_148950.2:n.1905+1678T>G | ||
| NR_148951.2:n.1781+1678T>G | ||
| NM_001354726.2:c.1454+2T>G | NP_001341655.1:n.1454+2T>G | |
| NM_001354729.2:c.2015+2T>G | NP_001341658.1:n.2015+2T>G | |
| NM_001354730.2:c.1787+2T>G | NP_001341659.1:n.1787+2T>G |