Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48982372A>C , CM000681.2:g.48982372A>C | GRCh38 |
| NC_000019.9:g.49485629A>C , CM000681.1:g.49485629A>C | GRCh37 |
| NC_000019.8:g.54177441A>C | NCBI36 |
| NG_012923.1:g.15982T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323798.8:c.945T>G MANE Select | ENSP00000317904.3:p.His315Gln | |
| ENST00000263276.6:c.753T>G | ENSP00000263276.6:p.His251Gln | |
| ENST00000323798.7:c.945T>G | ENSP00000317904.3:p.His315Gln | |
| ENST00000484289.2:n.136T>G | ||
| NM_001161587.1:c.753T>G | NP_001155059.1:p.His251Gln | |
| NM_002103.4:c.945T>G | NP_002094.2:p.His315Gln | |
| NR_027763.1:n.1004T>G | ||
| NM_002103.5:c.945T>G MANE Select | NP_002094.2:p.His315Gln | |
| NM_001161587.2:c.753T>G | NP_001155059.1:p.His251Gln | |
| NR_027763.2:n.960T>G |