Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10405465A>T , CM000682.2:g.10405465A>T | GRCh38 |
| NC_000020.10:g.10386113A>T , CM000682.1:g.10386113A>T | GRCh37 |
| NC_000020.9:g.10334113A>T | NCBI36 |
| NG_009109.1:g.33754T>A | |
| NG_009109.2:g.33754T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_170784.3:c.1495T>A MANE Select | NP_740754.1:p.Cys499Ser |
| ENST00000347364.7:c.1495T>A MANE Select | ENSP00000246062.4:p.Cys499Ser |
| NM_018848.3:c.1495T>A | NP_061336.1:p.Cys499Ser |
| NM_170784.2:c.1495T>A | NP_740754.1:p.Cys499Ser |
| NR_072977.1:n.873T>A | |
| NR_072977.2:n.856T>A | |
| ENST00000399054.6:c.1495T>A | ENSP00000382008.2:p.Cys499Ser |
| ENST00000651692.1:c.1495T>A | ENSP00000498849.1:p.Cys499Ser |
| ENST00000652676.1:n.1139T>A |