Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.86833266C= , CM000666.2:g.86833266C= | GRCh38 |
| NC_000004.11:g.87754419C= , CM000666.1:g.87754419C= | GRCh37 |
| NC_000004.10:g.87973443C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_197965.3:c.496+40G= MANE Select | NP_932069.1:n.496+40G= |
| ENST00000273905.7:c.496+40G= MANE Select | ENSP00000273905.6:n.496+40G= |
| NM_197965.2:c.496+40G= | NP_932069.1:n.496+40G= |
| ENST00000273905.6:c.496+40G= | ENSP00000273905.6:n.496+40G= |
| ENST00000505535.1:n.505+40G= | |
| XM_011531923.1:c.496+40G= | XP_011530225.1:n.496+40G= |
| XM_011531924.1:c.112+40G= | XP_011530226.1:n.112+40G= |