Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94063114G>C , CM000663.2:g.94063114G>C | GRCh38 |
| NC_000001.10:g.94528670G>C , CM000663.1:g.94528670G>C | GRCh37 |
| NC_000001.9:g.94301258G>C | NCBI36 |
| NG_009073.1:g.63036C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.1758C>G MANE Select | NP_000341.2:p.Asp586Glu |
| ENST00000370225.4:c.1758C>G MANE Select | ENSP00000359245.3:p.Asp586Glu |
| NM_000350.2:c.1758C>G | NP_000341.2:p.Asp586Glu |
| ENST00000370225.3:c.1758C>G | ENSP00000359245.3:p.Asp586Glu |
| ENST00000536513.5:c.-65+60C>G | ENSP00000439707.2:n.-65+60C>G |
| ENST00000649773.1:c.1758C>G | ENSP00000496882.1:p.Asp586Glu |