Linked Data
ClinVar Variation Id:
381231
dbSNP Id:
rs766407370
ExAC:
2:48010361 C / G
gnomAD v2:
2-48010361-C-G
gnomAD v3:
2-47783222-C-G
gnomAD v4:
2-47783222-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783222C>G , CM000664.2:g.47783222C>G | GRCh38 |
| NC_000002.11:g.48010361C>G , CM000664.1:g.48010361C>G | GRCh37 |
| NC_000002.10:g.47863865C>G | NCBI36 |
| NG_007111.1:g.5076C>G , LRG_219:g.5076C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.-12C>G | ENSP00000514752.2:n.-12C>G | |
| ENST00000699999.1:n.73C>G | ||
| ENST00000700000.1:c.-12C>G | ENSP00000514749.1:n.-12C>G | |
| ENST00000700001.1:n.61C>G | ||
| ENST00000700002.1:c.-12C>G | ENSP00000514750.1:n.-12C>G | |
| ENST00000234420.11:c.-12C>G MANE Select | ENSP00000234420.5:n.-12C>G | |
| ENST00000540021.6:c.-12C>G | ENSP00000446475.1:n.-12C>G | |
| ENST00000652107.1:c.-37-7705C>G | ENSP00000498629.1:n.-37-7705C>G | |
| ENST00000673637.1:c.-47C>G | ENSP00000501310.1:n.-47C>G | |
| ENST00000673922.1:n.78C>G | ||
| ENST00000234420.9:c.-12C>G | ENSP00000234420.4:n.-12C>G | |
| ENST00000445503.5:c.-12C>G | ENSP00000405294.1:n.-12C>G | |
| ENST00000456246.1:c.-12C>G | ENSP00000410570.1:n.-12C>G | |
| ENST00000493177.1:n.53C>G | ||
| ENST00000540021.5:c.-12C>G | ENSP00000446475.1:n.-12C>G | |
| ENST00000606499.1:c.-37-7705C>G | ENSP00000475605.1:n.-37-7705C>G | |
| ENST00000614496.4:c.-748C>G | ENSP00000477844.1:n.-748C>G | |
| ENST00000616033.4:c.-12C>G | ENSP00000480261.1:n.-12C>G | |
| ENST00000622629.4:c.-3108C>G | ENSP00000482078.1:n.-3108C>G | |
| NM_000179.2:c.-12C>G , LRG_219t1:c.-12C>G | NP_000170.1:n.-12C>G | |
| NM_001281492.1:c.-12C>G | NP_001268421.1:n.-12C>G | |
| NM_001281493.1:c.-748C>G | NP_001268422.1:n.-748C>G | |
| XM_011532800.1:c.-47C>G | XP_011531102.1:n.-47C>G | |
| XM_024452819.1:c.-12C>G | XP_024308587.1:n.-12C>G | |
| XM_024452822.1:c.-748C>G | XP_024308590.1:n.-748C>G | |
| NM_000179.3:c.-12C>G MANE Select | NP_000170.1:n.-12C>G | |
| NM_001281492.2:c.-12C>G | NP_001268421.1:n.-12C>G | |
| NM_001281493.2:c.-748C>G | NP_001268422.1:n.-748C>G |