Linked Data
gnomAD v4:
13-53051689-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.53051689G>T , CM000675.2:g.53051689G>T | GRCh38 |
| NC_000013.10:g.53625824G>T , CM000675.1:g.53625824G>T | GRCh37 |
| NC_000013.9:g.52523825G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219022.3:c.*918G>T MANE Select | ENSP00000219022.2:n.*918G>T | |
| ENST00000219022.2:c.*918G>T | ENSP00000219022.2:n.*918G>T | |
| NM_006418.4:c.*918G>T | NP_006409.3:n.*918G>T | |
| NM_006418.5:c.*918G>T MANE Select | NP_006409.3:n.*918G>T |