Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94412657G>A , CM000669.2:g.94412657G>A | GRCh38 |
| NC_000007.13:g.94041969G>A , CM000669.1:g.94041969G>A | GRCh37 |
| NC_000007.12:g.93879905G>A | NCBI36 |
| NG_007405.1:g.23097G>A , LRG_2:g.23097G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1478G>A MANE Select | NP_000080.2:p.Gly493Glu |
| ENST00000297268.11:c.1478G>A MANE Select | ENSP00000297268.6:p.Gly493Glu |
| NM_000089.3:c.1478G>A , LRG_2t1:c.1478G>A | NP_000080.2:p.Gly493Glu |
| ENST00000297268.10:c.1478G>A | ENSP00000297268.6:p.Gly493Glu |
| ENST00000620463.1:c.1472G>A | ENSP00000477719.1:p.Gly491Glu |