Linked Data
dbSNP Id:
rs4647610
gnomAD v2:
4-185567931-C-T
gnomAD v3:
4-184646777-C-T
gnomAD v4:
4-184646777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.184646777C>T , CM000666.2:g.184646777C>T | GRCh38 |
| NC_000004.11:g.185567931C>T , CM000666.1:g.185567931C>T | GRCh37 |
| NC_000004.10:g.185804925C>T | NCBI36 |
| NG_051582.1:g.2165C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700100.1:c.-16+1688G>A | ENSP00000514797.1:n.-16+1688G>A | |
| ENST00000700101.1:c.-16+3215G>A | ENSP00000514798.1:n.-16+3215G>A | |
| ENST00000700102.1:n.53+2618G>A | ||
| ENST00000700103.1:n.53+2618G>A | ||
| ENST00000700104.1:c.-16+2618G>A | ENSP00000514799.1:n.-16+2618G>A | |
| ENST00000308394.9:c.-16+1688G>A MANE Select | ENSP00000311032.4:n.-16+1688G>A | |
| ENST00000308394.8:c.-16+1688G>A | ENSP00000311032.4:n.-16+1688G>A | |
| ENST00000393585.6:c.-208+1688G>A | ENSP00000377210.2:n.-208+1688G>A | |
| ENST00000393588.8:c.-16+2618G>A | ENSP00000377213.4:n.-16+2618G>A | |
| ENST00000447121.2:c.-16+1726G>A | ENSP00000407142.2:n.-16+1726G>A | |
| ENST00000517513.5:c.-16+1688G>A | ENSP00000428372.1:n.-16+1688G>A | |
| ENST00000523916.5:c.-16+2618G>A | ENSP00000428929.1:n.-16+2618G>A | |
| ENST00000613118.4:c.-181+1688G>A | ENSP00000478339.1:n.-181+1688G>A | |
| NM_004346.3:c.-16+1688G>A | NP_004337.2:n.-16+1688G>A | |
| NM_032991.2:c.-16+2618G>A | NP_116786.1:n.-16+2618G>A | |
| XM_011532301.1:c.-16+1726G>A | XP_011530603.1:n.-16+1726G>A | |
| NM_001354777.1:c.-16+1726G>A | NP_001341706.1:n.-16+1726G>A | |
| NM_001354779.1:c.-90+2618G>A | NP_001341708.1:n.-90+2618G>A | |
| NM_001354780.1:c.-90+1688G>A | NP_001341709.1:n.-90+1688G>A | |
| NM_001354781.1:c.-16+2618G>A | NP_001341710.1:n.-16+2618G>A | |
| NM_001354782.1:c.-16+1688G>A | NP_001341711.1:n.-16+1688G>A | |
| NM_001354783.1:c.-181+1688G>A | NP_001341712.1:n.-181+1688G>A | |
| NM_001354784.1:c.-90+2618G>A | NP_001341713.1:n.-90+2618G>A | |
| NM_004346.4:c.-16+1688G>A MANE Select | NP_004337.2:n.-16+1688G>A | |
| NM_001354777.2:c.-16+1726G>A | NP_001341706.1:n.-16+1726G>A | |
| NM_001354779.2:c.-90+2618G>A | NP_001341708.1:n.-90+2618G>A | |
| NM_001354780.2:c.-90+1688G>A | NP_001341709.1:n.-90+1688G>A | |
| NM_001354781.2:c.-16+2618G>A | NP_001341710.1:n.-16+2618G>A | |
| NM_001354782.2:c.-16+1688G>A | NP_001341711.1:n.-16+1688G>A | |
| NM_001354783.2:c.-181+1688G>A | NP_001341712.1:n.-181+1688G>A | |
| NM_001354784.2:c.-90+2618G>A | NP_001341713.1:n.-90+2618G>A | |
| NM_032991.3:c.-16+2618G>A | NP_116786.1:n.-16+2618G>A |