Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519014C>A , CM000674.2:g.52519014C>A | GRCh38 |
| NC_000012.11:g.52912798C>A , CM000674.1:g.52912798C>A | GRCh37 |
| NC_000012.10:g.51199065C>A | NCBI36 |
| NG_008297.1:g.6446G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.702G>T MANE Select | NP_000415.2:p.Val234= |
| ENST00000252242.9:c.702G>T MANE Select | ENSP00000252242.4:p.Val234= |
| NM_000424.3:c.702G>T | NP_000415.2:p.Val234= |
| ENST00000252242.8:c.702G>T | ENSP00000252242.4:p.Val234= |
| ENST00000549420.1:c.372G>T | ENSP00000447209.1:p.Val124= |
| ENST00000551013.1:n.230G>T | |
| ENST00000551188.5:c.104G>T | |
| ENST00000552629.5:n.800G>T |