Linked Data
ClinVar Variation Id:
258983
dbSNP Id:
rs2857513
ExAC:
6:50811115 A / T
gnomAD v2:
6-50811115-A-T
gnomAD v3:
6-50843402-A-T
gnomAD v4:
6-50843402-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.50843402A>T , CM000668.2:g.50843402A>T | GRCh38 |
| NC_000006.11:g.50811115A>T , CM000668.1:g.50811115A>T | GRCh37 |
| NC_000006.10:g.50919074A>T | NCBI36 |
| NG_008438.1:g.29677A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000393655.4:c.*10A>T MANE Select | ENSP00000377265.2:n.*10A>T | |
| ENST00000393655.3:c.*10A>T | ENSP00000377265.2:n.*10A>T | |
| NM_003221.3:c.*10A>T | NP_003212.2:n.*10A>T | |
| XM_006715176.2:c.1342+51A>T | XP_006715239.1:n.1342+51A>T | |
| XM_006715177.2:c.1288+51A>T | XP_006715240.1:n.1288+51A>T | |
| XM_011514834.1:c.1369+51A>T | XP_011513136.1:n.1369+51A>T | |
| XM_011514835.1:c.1369+51A>T | XP_011513137.1:n.1369+51A>T | |
| XM_011514836.1:c.1369+51A>T | XP_011513138.1:n.1369+51A>T | |
| XM_011514837.1:c.*10A>T | XP_011513139.1:n.*10A>T | |
| XM_011514837.2:c.*10A>T | XP_011513139.1:n.*10A>T | |
| XM_017011233.1:c.*10A>T | XP_016866722.1:n.*10A>T | |
| XM_017011234.1:c.*10A>T | XP_016866723.1:n.*10A>T | |
| XM_017011235.2:c.*10A>T | XP_016866724.1:n.*10A>T | |
| NM_003221.4:c.*10A>T MANE Select | NP_003212.2:n.*10A>T |