Linked Data
gnomAD v4:
17-4631290-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631290T>A , CM000679.2:g.4631290T>A | GRCh38 |
| NC_000017.10:g.4534585T>A , CM000679.1:g.4534585T>A | GRCh37 |
| NC_000017.9:g.4481334T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.*310A>T MANE Select | ENSP00000293761.3:n.*310A>T | |
| ENST00000293761.7:c.*310A>T | ENSP00000293761.3:n.*310A>T | |
| ENST00000570836.5:c.*310A>T | ENSP00000458832.1:n.*310A>T | |
| NM_001140.3:c.*310A>T | NP_001131.3:n.*310A>T | |
| NM_001140.4:c.*310A>T | NP_001131.3:n.*310A>T | |
| NM_001140.5:c.*310A>T MANE Select | NP_001131.3:n.*310A>T |