Linked Data
gnomAD v4:
1-193251493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251493C>T , CM000663.2:g.193251493C>T | GRCh38 |
| NC_000001.10:g.193220623C>T , CM000663.1:g.193220623C>T | GRCh37 |
| NC_000001.9:g.191487246C>T | NCBI36 |
| NG_012691.1:g.134536C>T , LRG_507:g.134536C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*781C>T MANE Select | ENSP00000356405.4:n.*781C>T | |
| ENST00000635846.1:c.*781C>T | ENSP00000490035.1:n.*781C>T | |
| ENST00000643006.1:c.*1287C>T | ENSP00000496633.1:n.*1287C>T | |
| ENST00000367435.3:c.*781C>T | ENSP00000356405.3:n.*781C>T | |
| NM_024529.4:c.*781C>T , LRG_507t1:c.*781C>T | NP_078805.3:n.*781C>T | |
| NM_024529.5:c.*781C>T MANE Select | NP_078805.3:n.*781C>T |