Linked Data
gnomAD v4:
7-94423081-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423081C>T , CM000669.2:g.94423081C>T | GRCh38 |
| NC_000007.13:g.94052393C>T , CM000669.1:g.94052393C>T | GRCh37 |
| NC_000007.12:g.93890329C>T | NCBI36 |
| NG_007405.1:g.33521C>T , LRG_2:g.33521C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2528C>T MANE Select | ENSP00000297268.6:p.Ala843Val | |
| ENST00000297268.10:c.2528C>T | ENSP00000297268.6:p.Ala843Val | |
| ENST00000481570.5:n.611C>T | ||
| ENST00000497316.5:n.925C>T | ||
| ENST00000620463.1:c.2522C>T | ENSP00000477719.1:p.Ala841Val | |
| NM_000089.3:c.2528C>T , LRG_2t1:c.2528C>T | NP_000080.2:p.Ala843Val | |
| NM_000089.4:c.2528C>T MANE Select | NP_000080.2:p.Ala843Val |