Linked Data
gnomAD v4:
13-53051648-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.53051648C>A , CM000675.2:g.53051648C>A | GRCh38 |
| NC_000013.10:g.53625783C>A , CM000675.1:g.53625783C>A | GRCh37 |
| NC_000013.9:g.52523784C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219022.3:c.*877C>A MANE Select | ENSP00000219022.2:n.*877C>A | |
| ENST00000219022.2:c.*877C>A | ENSP00000219022.2:n.*877C>A | |
| NM_006418.4:c.*877C>A | NP_006409.3:n.*877C>A | |
| NM_006418.5:c.*877C>A MANE Select | NP_006409.3:n.*877C>A |