Linked Data
gnomAD v4:
1-193251557-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251557A>T , CM000663.2:g.193251557A>T | GRCh38 |
| NC_000001.10:g.193220687A>T , CM000663.1:g.193220687A>T | GRCh37 |
| NC_000001.9:g.191487310A>T | NCBI36 |
| NG_012691.1:g.134600A>T , LRG_507:g.134600A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*845A>T MANE Select | ENSP00000356405.4:n.*845A>T | |
| ENST00000635846.1:c.*845A>T | ENSP00000490035.1:n.*845A>T | |
| ENST00000643006.1:c.*1351A>T | ENSP00000496633.1:n.*1351A>T | |
| ENST00000367435.3:c.*845A>T | ENSP00000356405.3:n.*845A>T | |
| NM_024529.4:c.*845A>T , LRG_507t1:c.*845A>T | NP_078805.3:n.*845A>T | |
| NM_024529.5:c.*845A>T MANE Select | NP_078805.3:n.*845A>T |