Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10413360C>A , CM000682.2:g.10413360C>A | GRCh38 |
| NC_000020.10:g.10394008C>A , CM000682.1:g.10394008C>A | GRCh37 |
| NC_000020.9:g.10342008C>A | NCBI36 |
| NG_009109.1:g.25859G>T | |
| NG_009109.2:g.25859G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170784.3:c.155G>T MANE Select | NP_740754.1:p.Gly52Val |
| ENST00000347364.7:c.155G>T MANE Select | ENSP00000246062.4:p.Gly52Val |
| NM_018848.3:c.155G>T | NP_061336.1:p.Gly52Val |
| NM_170784.2:c.155G>T | NP_740754.1:p.Gly52Val |
| NR_072977.1:n.364-4557G>T | |
| NR_072977.2:n.347-4557G>T | |
| ENST00000399054.6:c.155G>T | ENSP00000382008.2:p.Gly52Val |
| ENST00000651692.1:c.155G>T | ENSP00000498849.1:p.Gly52Val |
| ENST00000652676.1:n.458+436G>T |