Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5652906C>T , CM000672.2:g.5652906C>T | GRCh38 |
| NC_000010.10:g.5694869C>T , CM000672.1:g.5694869C>T | GRCh37 |
| NC_000010.9:g.5734875C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024701.4:c.188G>A MANE Select | NP_078977.2:p.Gly63Asp |
| ENST00000357700.11:c.188G>A MANE Select | ENSP00000350331.6:p.Gly63Asp |
| NM_024701.3:c.188G>A | NP_078977.2:p.Gly63Asp |
| NR_024581.1:n.232G>A | |
| NR_024581.2:n.232G>A | |
| NR_037164.1:n.232G>A | |
| NR_037164.2:n.232G>A | |
| ENST00000357700.10:c.188G>A | ENSP00000350331.6:p.Gly63Asp |
| ENST00000459912.5:c.188G>A | ENSP00000433358.1:p.Gly63Asp |
| ENST00000479033.1:n.232G>A |