Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423020G>T , CM000669.2:g.94423020G>T | GRCh38 |
| NC_000007.13:g.94052332G>T , CM000669.1:g.94052332G>T | GRCh37 |
| NC_000007.12:g.93890268G>T | NCBI36 |
| NG_007405.1:g.33460G>T , LRG_2:g.33460G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2467G>T MANE Select | ENSP00000297268.6:p.Gly823Cys | |
| ENST00000297268.10:c.2467G>T | ENSP00000297268.6:p.Gly823Cys | |
| ENST00000481570.5:n.550G>T | ||
| ENST00000497316.5:n.864G>T | ||
| ENST00000620463.1:c.2461G>T | ENSP00000477719.1:p.Gly821Cys | |
| NM_000089.3:c.2467G>T , LRG_2t1:c.2467G>T | NP_000080.2:p.Gly823Cys | |
| NM_000089.4:c.2467G>T MANE Select | NP_000080.2:p.Gly823Cys |