Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94422958G>T , CM000669.2:g.94422958G>T | GRCh38 |
| NC_000007.13:g.94052270G>T , CM000669.1:g.94052270G>T | GRCh37 |
| NC_000007.12:g.93890206G>T | NCBI36 |
| NG_007405.1:g.33398G>T , LRG_2:g.33398G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2405G>T MANE Select | NP_000080.2:p.Gly802Val |
| ENST00000297268.11:c.2405G>T MANE Select | ENSP00000297268.6:p.Gly802Val |
| NM_000089.3:c.2405G>T , LRG_2t1:c.2405G>T | NP_000080.2:p.Gly802Val |
| ENST00000297268.10:c.2405G>T | ENSP00000297268.6:p.Gly802Val |
| ENST00000481570.5:n.488G>T | |
| ENST00000497316.5:n.802G>T | |
| ENST00000620463.1:c.2399G>T | ENSP00000477719.1:p.Gly800Val |