Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887577C>G , CM000664.2:g.72887577C>G | GRCh38 |
| NC_000002.11:g.73114706C>G , CM000664.1:g.73114706C>G | GRCh37 |
| NC_000002.10:g.72968214C>G | NCBI36 |
| NG_008234.1:g.5195C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.145C>G MANE Select | ENSP00000234454.5:p.Gln49Glu | |
| ENST00000234454.5:c.145C>G | ENSP00000234454.5:p.Gln49Glu | |
| ENST00000498749.1:n.196C>G | ||
| NM_003124.4:c.145C>G | NP_003115.1:p.Gln49Glu | |
| NM_003124.5:c.145C>G MANE Select | NP_003115.1:p.Gln49Glu |