Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426423G>T , CM000669.2:g.94426423G>T | GRCh38 |
| NC_000007.13:g.94055735G>T , CM000669.1:g.94055735G>T | GRCh37 |
| NC_000007.12:g.93893671G>T | NCBI36 |
| NG_007405.1:g.36863G>T , LRG_2:g.36863G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2998G>T MANE Select | ENSP00000297268.6:p.Gly1000Cys | |
| ENST00000297268.10:c.2998G>T | ENSP00000297268.6:p.Gly1000Cys | |
| ENST00000478215.1:n.557G>T | ||
| ENST00000481570.5:n.2971G>T | ||
| ENST00000620463.1:c.2992G>T | ENSP00000477719.1:p.Gly998Cys | |
| NM_000089.3:c.2998G>T , LRG_2t1:c.2998G>T | NP_000080.2:p.Gly1000Cys | |
| NM_000089.4:c.2998G>T MANE Select | NP_000080.2:p.Gly1000Cys |