Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413360C>T , CM000682.2:g.10413360C>T | GRCh38 |
| NC_000020.10:g.10394008C>T , CM000682.1:g.10394008C>T | GRCh37 |
| NC_000020.9:g.10342008C>T | NCBI36 |
| NG_009109.1:g.25859G>A | |
| NG_009109.2:g.25859G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170784.3:c.155G>A MANE Select | NP_740754.1:p.Gly52Asp |
| ENST00000347364.7:c.155G>A MANE Select | ENSP00000246062.4:p.Gly52Asp |
| NM_018848.3:c.155G>A | NP_061336.1:p.Gly52Asp |
| NM_170784.2:c.155G>A | NP_740754.1:p.Gly52Asp |
| NR_072977.1:n.364-4557G>A | |
| NR_072977.2:n.347-4557G>A | |
| ENST00000399054.6:c.155G>A | ENSP00000382008.2:p.Gly52Asp |
| ENST00000651692.1:c.155G>A | ENSP00000498849.1:p.Gly52Asp |
| ENST00000652676.1:n.458+436G>A |