Linked Data
ClinVar Variation Id:
472269
dbSNP Id:
rs776461147
ExAC:
19:10252751 C / T
gnomAD v2:
19-10252751-C-T
gnomAD v3:
19-10142075-C-T
gnomAD v4:
19-10142075-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10142075C>T , CM000681.2:g.10142075C>T | GRCh38 |
| NC_000019.9:g.10252751C>T , CM000681.1:g.10252751C>T | GRCh37 |
| NC_000019.8:g.10113751C>T | NCBI36 |
| NG_028016.3:g.94212G>A , LRG_362:g.94212G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.3262G>A MANE Select | ENSP00000352516.3:p.Val1088Ile | |
| ENST00000586667.2:n.1297G>A | ||
| ENST00000676604.1:n.2874G>A | ||
| ENST00000676610.1:c.3214G>A | ENSP00000504236.1:p.Val1072Ile | |
| ENST00000676820.1:n.3270G>A | ||
| ENST00000676868.1:n.3898G>A | ||
| ENST00000677013.1:c.*2904G>A | ENSP00000503135.1:n.*2904G>A | |
| ENST00000677250.1:c.*2334G>A | ENSP00000502894.1:n.*2334G>A | |
| ENST00000677616.1:c.2905G>A | ENSP00000503055.1:p.Val969Ile | |
| ENST00000677634.1:c.3209+5G>A | ENSP00000504246.1:n.3209+5G>A | |
| ENST00000677685.1:c.*2439G>A | ENSP00000503407.1:n.*2439G>A | |
| ENST00000677783.1:n.3684G>A | ||
| ENST00000677946.1:c.3214G>A | ENSP00000504202.1:p.Val1072Ile | |
| ENST00000678024.1:n.3357G>A | ||
| ENST00000678647.1:n.1347G>A | ||
| ENST00000678694.1:n.2535G>A | ||
| ENST00000678804.1:c.3214G>A | ENSP00000503853.1:p.Val1072Ile | |
| ENST00000679100.1:n.1401G>A | ||
| ENST00000679103.1:c.3214G>A | ENSP00000503151.1:p.Val1072Ile | |
| ENST00000679313.1:c.3214G>A | ENSP00000504512.1:p.Val1072Ile | |
| ENST00000340748.8:c.3214G>A | ENSP00000345739.3:p.Val1072Ile | |
| ENST00000359526.8:c.3262G>A | ENSP00000352516.3:p.Val1088Ile | |
| ENST00000540357.5:c.2206G>A | ENSP00000440457.2:p.Val736Ile | |
| ENST00000586588.5:n.1135G>A | ||
| ENST00000589538.5:n.282G>A | ||
| ENST00000591239.1:n.172G>A | ||
| ENST00000592705.5:c.*2952G>A | ENSP00000466657.1:n.*2952G>A | |
| ENST00000593049.5:n.224G>A | ||
| NM_001130823.1:c.3262G>A , LRG_362t1:c.3262G>A | NP_001124295.1:p.Val1088Ile | |
| NM_001379.2:c.3214G>A | NP_001370.1:p.Val1072Ile | |
| XM_011527772.1:c.3262G>A | XP_011526074.1:p.Val1088Ile | |
| XM_011527773.1:c.3214G>A | XP_011526075.1:p.Val1072Ile | |
| XM_011527774.1:c.2851G>A | XP_011526076.1:p.Val951Ile | |
| NM_001130823.2:c.3262G>A | NP_001124295.1:p.Val1088Ile | |
| NM_001318730.1:c.3214G>A | NP_001305659.1:p.Val1072Ile | |
| NM_001318731.1:c.2899G>A | NP_001305660.1:p.Val967Ile | |
| NM_001379.3:c.3214G>A | NP_001370.1:p.Val1072Ile | |
| NM_001130823.3:c.3262G>A MANE Select | NP_001124295.1:p.Val1088Ile | |
| NM_001318730.2:c.3214G>A | NP_001305659.1:p.Val1072Ile | |
| NM_001318731.2:c.2899G>A | NP_001305660.1:p.Val967Ile | |
| NM_001379.4:c.3214G>A | NP_001370.1:p.Val1072Ile |