Linked Data
dbSNP Id:
rs1049253
gnomAD v2:
4-185548951-A-G
gnomAD v3:
4-184627797-A-G
gnomAD v4:
4-184627797-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.184627797A>G , CM000666.2:g.184627797A>G | GRCh38 |
| NC_000004.11:g.185548951A>G , CM000666.1:g.185548951A>G | GRCh37 |
| NC_000004.10:g.185785945A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700100.1:c.*1475T>C | ENSP00000514797.1:n.*1475T>C | |
| ENST00000700101.1:c.*1475T>C | ENSP00000514798.1:n.*1475T>C | |
| ENST00000700102.1:n.3912T>C | ||
| ENST00000700103.1:n.5274T>C | ||
| ENST00000700104.1:c.*2058T>C | ENSP00000514799.1:n.*2058T>C | |
| ENST00000308394.9:c.*1475T>C MANE Select | ENSP00000311032.4:n.*1475T>C | |
| ENST00000308394.8:c.*1475T>C | ENSP00000311032.4:n.*1475T>C | |
| ENST00000393585.6:c.*1639T>C | ENSP00000377210.2:n.*1639T>C | |
| ENST00000523916.5:c.*1475T>C | ENSP00000428929.1:n.*1475T>C | |
| ENST00000613118.4:c.*1742T>C | ENSP00000478339.1:n.*1742T>C | |
| NM_004346.3:c.*1475T>C | NP_004337.2:n.*1475T>C | |
| NM_032991.2:c.*1475T>C | NP_116786.1:n.*1475T>C | |
| XM_011532301.1:c.*1475T>C | XP_011530603.1:n.*1475T>C | |
| NM_001354777.1:c.*1475T>C | NP_001341706.1:n.*1475T>C | |
| NM_001354779.1:c.*1475T>C | NP_001341708.1:n.*1475T>C | |
| NM_001354780.1:c.*1475T>C | NP_001341709.1:n.*1475T>C | |
| NM_001354781.1:c.*1639T>C | NP_001341710.1:n.*1639T>C | |
| NM_001354782.1:c.*1639T>C | NP_001341711.1:n.*1639T>C | |
| NM_001354783.1:c.*1639T>C | NP_001341712.1:n.*1639T>C | |
| NM_001354784.1:c.*1639T>C | NP_001341713.1:n.*1639T>C | |
| NM_004346.4:c.*1475T>C MANE Select | NP_004337.2:n.*1475T>C | |
| NM_001354777.2:c.*1475T>C | NP_001341706.1:n.*1475T>C | |
| NM_001354779.2:c.*1475T>C | NP_001341708.1:n.*1475T>C | |
| NM_001354780.2:c.*1475T>C | NP_001341709.1:n.*1475T>C | |
| NM_001354781.2:c.*1639T>C | NP_001341710.1:n.*1639T>C | |
| NM_001354782.2:c.*1639T>C | NP_001341711.1:n.*1639T>C | |
| NM_001354783.2:c.*1639T>C | NP_001341712.1:n.*1639T>C | |
| NM_001354784.2:c.*1639T>C | NP_001341713.1:n.*1639T>C | |
| NM_032991.3:c.*1475T>C | NP_116786.1:n.*1475T>C |