Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56983366C>G , CM000678.2:g.56983366C>G | GRCh38 |
| NC_000016.9:g.57017278C>G , CM000678.1:g.57017278C>G | GRCh37 |
| NC_000016.8:g.55574779C>G | NCBI36 |
| NG_008952.1:g.26444C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1362C>G MANE Select | ENSP00000200676.3:p.Gly454= | |
| ENST00000650358.1:n.1760C>G | ||
| ENST00000200676.7:c.1362C>G | ENSP00000200676.3:p.Gly454= | |
| ENST00000379780.6:c.1182C>G | ENSP00000369106.2:p.Gly394= | |
| ENST00000566128.1:c.1167C>G | ENSP00000456276.1:p.Gly389= | |
| NM_000078.2:c.1362C>G | NP_000069.2:p.Gly454= | |
| NM_001286085.1:c.1182C>G | NP_001273014.1:p.Gly394= | |
| NM_000078.3:c.1362C>G MANE Select | NP_000069.2:p.Gly454= | |
| NM_001286085.2:c.1182C>G | NP_001273014.1:p.Gly394= |