Linked Data
dbSNP Id:
rs752681549
ExAC:
6:32007744 A / T
gnomAD v2:
6-32007744-A-T
gnomAD v3:
6-32039967-A-T
gnomAD v4:
6-32039967-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32039967A>T , CM000668.2:g.32039967A>T | GRCh38 |
| NC_000006.11:g.32007744A>T , CM000668.1:g.32007744A>T | GRCh37 |
| NC_000006.10:g.32115723A>T | NCBI36 |
| NG_007941.2:g.6660A>T | |
| NG_008337.2:g.74408T>A | |
| NG_007941.3:g.6663A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644719.2:c.739-38A>T MANE Select | ENSP00000496625.1:n.739-38A>T | |
| ENST00000418967.6:c.739-38A>T | ENSP00000408860.2:n.739-38A>T | |
| ENST00000435122.3:c.649-38A>T | ENSP00000415043.2:n.649-38A>T | |
| ENST00000462278.1:n.559A>T | ||
| ENST00000479074.5:n.797-38A>T | ||
| ENST00000479730.5:n.855-38A>T | ||
| ENST00000483041.5:n.908-38A>T | ||
| ENST00000486063.5:n.918+132A>T | ||
| NM_000500.7:c.739-38A>T | NP_000491.4:n.739-38A>T | |
| NM_001128590.3:c.649-38A>T | NP_001122062.3:n.649-38A>T | |
| XM_011514314.1:c.334-38A>T | XP_011512616.1:n.334-38A>T | |
| NM_000500.9:c.739-38A>T MANE Select | NP_000491.4:n.739-38A>T | |
| NM_001368143.1:c.334-38A>T | NP_001355072.1:n.334-38A>T | |
| NM_001368144.1:c.334-38A>T | NP_001355073.1:n.334-38A>T | |
| NM_001128590.4:c.649-38A>T | NP_001122062.3:n.649-38A>T | |
| NM_001368143.2:c.334-38A>T | NP_001355072.1:n.334-38A>T | |
| NM_001368144.2:c.334-38A>T | NP_001355073.1:n.334-38A>T |