Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10407619G>A , CM000682.2:g.10407619G>A | GRCh38 |
| NC_000020.10:g.10388267G>A , CM000682.1:g.10388267G>A | GRCh37 |
| NC_000020.9:g.10336267G>A | NCBI36 |
| NG_009109.1:g.31600C>T | |
| NG_009109.2:g.31600C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170784.3:c.1269C>T MANE Select | NP_740754.1:p.His423= |
| ENST00000347364.7:c.1269C>T MANE Select | ENSP00000246062.4:p.His423= |
| NM_018848.3:c.1269C>T | NP_061336.1:p.His423= |
| NM_170784.2:c.1269C>T | NP_740754.1:p.His423= |
| NR_072977.1:n.647C>T | |
| NR_072977.2:n.630C>T | |
| ENST00000399054.6:c.1269C>T | ENSP00000382008.2:p.His423= |
| ENST00000651692.1:c.1269C>T | ENSP00000498849.1:p.His423= |
| ENST00000652676.1:n.913C>T |