Linked Data
ClinVar Variation Id:
343577
dbSNP Id:
rs367977379
ExAC:
3:14209884 T / C
gnomAD v2:
3-14209884-T-C
gnomAD v3:
3-14168384-T-C
gnomAD v4:
3-14168384-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14168384T>C , CM000665.2:g.14168384T>C | GRCh38 |
| NC_000003.11:g.14209884T>C , CM000665.1:g.14209884T>C | GRCh37 |
| NC_000003.10:g.14184888T>C | NCBI36 |
| NG_011763.1:g.15289A>G , LRG_472:g.15289A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.413-4A>G MANE Select | ENSP00000285021.8:n.413-4A>G | |
| ENST00000285021.11:c.413-4A>G | ENSP00000285021.7:n.413-4A>G | |
| ENST00000452172.1:n.178-4A>G | ||
| ENST00000455144.6:n.24-4A>G | ||
| ENST00000476581.6:c.413-1131A>G | ENSP00000424548.1:n.413-1131A>G | |
| ENST00000511155.1:c.395-4A>G | ENSP00000423867.1:n.395-4A>G | |
| NM_004628.4:c.413-4A>G , LRG_472t1:c.413-4A>G | NP_004619.3:n.413-4A>G | |
| NR_027299.1:n.517-1131A>G | ||
| XM_011534092.1:c.413-4A>G | XP_011532394.1:n.413-4A>G | |
| XM_011534093.1:c.413-4A>G | XP_011532395.1:n.413-4A>G | |
| NM_001354726.1:c.-43-1131A>G | NP_001341655.1:n.-43-1131A>G | |
| NM_001354727.1:c.413-4A>G | NP_001341656.1:n.413-4A>G | |
| NM_001354729.1:c.395-4A>G | NP_001341658.1:n.395-4A>G | |
| NM_001354730.1:c.413-4A>G | NP_001341659.1:n.413-4A>G | |
| NR_148950.1:n.517-4A>G | ||
| NR_148951.1:n.517-1131A>G | ||
| XR_001740256.2:n.446-4A>G | ||
| XR_002959580.1:n.446-4A>G | ||
| XR_002959581.1:n.446-4A>G | ||
| NM_001354727.2:c.413-4A>G | NP_001341656.1:n.413-4A>G | |
| NM_004628.5:c.413-4A>G MANE Select | NP_004619.3:n.413-4A>G | |
| NR_148950.2:n.446-4A>G | ||
| NR_148951.2:n.446-1131A>G | ||
| NM_001354726.2:c.-43-1131A>G | NP_001341655.1:n.-43-1131A>G | |
| NM_001354729.2:c.395-4A>G | NP_001341658.1:n.395-4A>G | |
| NM_001354730.2:c.413-4A>G | NP_001341659.1:n.413-4A>G |