Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94413129G= , CM000669.2:g.94413129G= | GRCh38 |
| NC_000007.13:g.94042441G= , CM000669.1:g.94042441G= | GRCh37 |
| NC_000007.12:g.93880377G= | NCBI36 |
| NG_007405.1:g.23569G= , LRG_2:g.23569G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1550G= MANE Select | NP_000080.2:p.Gly517= |
| ENST00000297268.11:c.1550G= MANE Select | ENSP00000297268.6:p.Gly517= |
| NM_000089.3:c.1550G= , LRG_2t1:c.1550G= | NP_000080.2:p.Gly517= |
| ENST00000297268.10:c.1550G= | ENSP00000297268.6:p.Gly517= |
| ENST00000620463.1:c.1544G= | ENSP00000477719.1:p.Gly515= |