Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420595G>A , CM000669.2:g.94420595G>A | GRCh38 |
| NC_000007.13:g.94049907G>A , CM000669.1:g.94049907G>A | GRCh37 |
| NC_000007.12:g.93887843G>A | NCBI36 |
| NG_007405.1:g.31035G>A , LRG_2:g.31035G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2242G>A MANE Select | NP_000080.2:p.Gly748Ser |
| ENST00000297268.11:c.2242G>A MANE Select | ENSP00000297268.6:p.Gly748Ser |
| NM_000089.3:c.2242G>A , LRG_2t1:c.2242G>A | NP_000080.2:p.Gly748Ser |
| ENST00000297268.10:c.2242G>A | ENSP00000297268.6:p.Gly748Ser |
| ENST00000461525.5:n.331G>A | |
| ENST00000467931.1:n.262G>A | |
| ENST00000473573.5:n.579G>A | |
| ENST00000497316.5:n.639G>A | |
| ENST00000620463.1:c.2236G>A | ENSP00000477719.1:p.Gly746Ser |