Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426513G>A , CM000669.2:g.94426513G>A | GRCh38 |
| NC_000007.13:g.94055825G>A , CM000669.1:g.94055825G>A | GRCh37 |
| NC_000007.12:g.93893761G>A | NCBI36 |
| NG_007405.1:g.36953G>A , LRG_2:g.36953G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.3088G>A MANE Select | NP_000080.2:p.Gly1030Ser |
| ENST00000297268.11:c.3088G>A MANE Select | ENSP00000297268.6:p.Gly1030Ser |
| NM_000089.3:c.3088G>A , LRG_2t1:c.3088G>A | NP_000080.2:p.Gly1030Ser |
| ENST00000297268.10:c.3088G>A | ENSP00000297268.6:p.Gly1030Ser |
| ENST00000478215.1:n.647G>A | |
| ENST00000481570.5:n.3061G>A | |
| ENST00000488121.1:n.4G>A | |
| ENST00000620463.1:c.3082G>A | ENSP00000477719.1:p.Gly1028Ser |