Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94422845A>G , CM000669.2:g.94422845A>G | GRCh38 |
| NC_000007.13:g.94052157A>G , CM000669.1:g.94052157A>G | GRCh37 |
| NC_000007.12:g.93890093A>G | NCBI36 |
| NG_007405.1:g.33285A>G , LRG_2:g.33285A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2404-112A>G MANE Select | ENSP00000297268.6:n.2404-112A>G | |
| ENST00000297268.10:c.2404-112A>G | ENSP00000297268.6:n.2404-112A>G | |
| ENST00000481570.5:n.375A>G | ||
| ENST00000497316.5:n.801-112A>G | ||
| ENST00000620463.1:c.2398-112A>G | ENSP00000477719.1:n.2398-112A>G | |
| NM_000089.3:c.2404-112A>G , LRG_2t1:c.2404-112A>G | NP_000080.2:n.2404-112A>G | |
| NM_000089.4:c.2404-112A>G MANE Select | NP_000080.2:n.2404-112A>G |