Linked Data
gnomAD v4:
3-52451219-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52451219A>T , CM000665.2:g.52451219A>T | GRCh38 |
| NC_000003.11:g.52485235A>T , CM000665.1:g.52485235A>T | GRCh37 |
| NC_000003.10:g.52460275A>T | NCBI36 |
| NG_008963.1:g.7823T>A , LRG_378:g.7823T>A | |
| NG_033112.1:g.712A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.*56T>A MANE Select | ENSP00000232975.3:n.*56T>A | |
| ENST00000232975.7:c.*56T>A | ENSP00000232975.3:n.*56T>A | |
| NM_003280.2:c.*56T>A , LRG_378t1:c.*56T>A | NP_003271.1:n.*56T>A | |
| NM_003280.3:c.*56T>A MANE Select | NP_003271.1:n.*56T>A |