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