Linked Data
ClinVar Variation Id:
1342722
ClinVar RCV Id:
RCV002280586
dbSNP Id:
rs746319045
ExAC:
3:14190313 C / T
gnomAD v2:
3-14190313-C-T
gnomAD v4:
3-14148813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148813C>T , CM000665.2:g.14148813C>T | GRCh38 |
| NC_000003.11:g.14190313C>T , CM000665.1:g.14190313C>T | GRCh37 |
| NC_000003.10:g.14165314C>T | NCBI36 |
| NG_011763.1:g.34860G>A , LRG_472:g.34860G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2250+1G>A MANE Select | ENSP00000285021.8:n.2250+1G>A | |
| ENST00000285021.11:c.2250+1G>A | ENSP00000285021.7:n.2250+1G>A | |
| ENST00000427795.2:n.115+1G>A | ||
| ENST00000476581.6:c.*1703+1G>A | ENSP00000424548.1:n.*1703+1G>A | |
| NM_004628.4:c.2250+1G>A , LRG_472t1:c.2250+1G>A | NP_004619.3:n.2250+1G>A | |
| NR_027299.1:n.2230+1G>A | ||
| XM_011534092.1:c.2250+1G>A | XP_011532394.1:n.2250+1G>A | |
| NM_001354726.1:c.1671+1G>A | NP_001341655.1:n.1671+1G>A | |
| NM_001354727.1:c.2244+1G>A | NP_001341656.1:n.2244+1G>A | |
| NM_001354729.1:c.2232+1G>A | NP_001341658.1:n.2232+1G>A | |
| NM_001354730.1:c.2004+1G>A | NP_001341659.1:n.2004+1G>A | |
| NR_148950.1:n.2193+1G>A | ||
| NR_148951.1:n.2069+1G>A | ||
| XR_001740256.2:n.2283+1G>A | ||
| XR_002959580.1:n.2283+1G>A | ||
| XR_002959581.1:n.3900+1G>A | ||
| NM_001354727.2:c.2244+1G>A | NP_001341656.1:n.2244+1G>A | |
| NM_004628.5:c.2250+1G>A MANE Select | NP_004619.3:n.2250+1G>A | |
| NR_148950.2:n.2122+1G>A | ||
| NR_148951.2:n.1998+1G>A | ||
| NM_001354726.2:c.1671+1G>A | NP_001341655.1:n.1671+1G>A | |
| NM_001354729.2:c.2232+1G>A | NP_001341658.1:n.2232+1G>A | |
| NM_001354730.2:c.2004+1G>A | NP_001341659.1:n.2004+1G>A |