Linked Data
ClinVar Variation Id:
142219
dbSNP Id:
rs374748889
ExAC:
2:48010371 G / T
gnomAD v2:
2-48010371-G-T
gnomAD v3:
2-47783232-G-T
gnomAD v4:
2-47783232-G-T
PubMed:
PMID:26888055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783232G>T , CM000664.2:g.47783232G>T | GRCh38 |
| NC_000002.11:g.48010371G>T , CM000664.1:g.48010371G>T | GRCh37 |
| NC_000002.10:g.47863875G>T | NCBI36 |
| NG_007111.1:g.5086G>T , LRG_219:g.5086G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.-2G>T | ENSP00000514752.2:n.-2G>T | |
| ENST00000699999.1:n.83G>T | ||
| ENST00000700000.1:c.-2G>T | ENSP00000514749.1:n.-2G>T | |
| ENST00000700001.1:n.71G>T | ||
| ENST00000700002.1:c.-2G>T | ENSP00000514750.1:n.-2G>T | |
| ENST00000234420.11:c.-2G>T MANE Select | ENSP00000234420.5:n.-2G>T | |
| ENST00000540021.6:c.-2G>T | ENSP00000446475.1:n.-2G>T | |
| ENST00000652107.1:c.-37-7695G>T | ENSP00000498629.1:n.-37-7695G>T | |
| ENST00000673637.1:c.-38+1G>T | ENSP00000501310.1:n.-38+1G>T | |
| ENST00000673922.1:n.88G>T | ||
| ENST00000234420.9:c.-2G>T | ENSP00000234420.4:n.-2G>T | |
| ENST00000445503.5:c.-2G>T | ENSP00000405294.1:n.-2G>T | |
| ENST00000456246.1:c.-2G>T | ENSP00000410570.1:n.-2G>T | |
| ENST00000493177.1:n.63G>T | ||
| ENST00000540021.5:c.-2G>T | ENSP00000446475.1:n.-2G>T | |
| ENST00000606499.1:c.-37-7695G>T | ENSP00000475605.1:n.-37-7695G>T | |
| ENST00000614496.4:c.-738G>T | ENSP00000477844.1:n.-738G>T | |
| ENST00000616033.4:c.-2G>T | ENSP00000480261.1:n.-2G>T | |
| ENST00000622629.4:c.-3098G>T | ENSP00000482078.1:n.-3098G>T | |
| NM_000179.2:c.-2G>T , LRG_219t1:c.-2G>T | NP_000170.1:n.-2G>T | |
| NM_001281492.1:c.-2G>T | NP_001268421.1:n.-2G>T | |
| NM_001281493.1:c.-738G>T | NP_001268422.1:n.-738G>T | |
| XM_011532800.1:c.-38+1G>T | XP_011531102.1:n.-38+1G>T | |
| XM_024452819.1:c.-2G>T | XP_024308587.1:n.-2G>T | |
| XM_024452822.1:c.-738G>T | XP_024308590.1:n.-738G>T | |
| NM_000179.3:c.-2G>T MANE Select | NP_000170.1:n.-2G>T | |
| NM_001281492.2:c.-2G>T | NP_001268421.1:n.-2G>T | |
| NM_001281493.2:c.-738G>T | NP_001268422.1:n.-738G>T |