Linked Data
gnomAD v4:
1-193251877-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.193251877C>T , CM000663.2:g.193251877C>T | GRCh38 |
| NC_000001.10:g.193221007C>T , CM000663.1:g.193221007C>T | GRCh37 |
| NC_000001.9:g.191487630C>T | NCBI36 |
| NG_012691.1:g.134920C>T , LRG_507:g.134920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367435.5:c.*1165C>T MANE Select | ENSP00000356405.4:n.*1165C>T | |
| ENST00000635846.1:c.*1165C>T | ENSP00000490035.1:n.*1165C>T | |
| ENST00000643006.1:c.*1671C>T | ENSP00000496633.1:n.*1671C>T | |
| ENST00000367435.3:c.*1165C>T | ENSP00000356405.3:n.*1165C>T | |
| NM_024529.4:c.*1165C>T , LRG_507t1:c.*1165C>T | NP_078805.3:n.*1165C>T | |
| NM_024529.5:c.*1165C>T MANE Select | NP_078805.3:n.*1165C>T |