Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10681157T>C , CM000679.2:g.10681157T>C | GRCh38 |
| NC_000017.10:g.10584474T>C , CM000679.1:g.10584474T>C | GRCh37 |
| NC_000017.9:g.10525199T>C | NCBI36 |
| NG_008228.2:g.21412A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004589.4:c.868A>G MANE Select | NP_004580.1:p.Ile290Val |
| ENST00000255390.10:c.868A>G MANE Select | ENSP00000255390.5:p.Ile290Val |
| NM_004589.3:c.868A>G | NP_004580.1:p.Ile290Val |
| ENST00000255390.9:c.868A>G | ENSP00000255390.5:p.Ile290Val |
| ENST00000577335.2:c.*690A>G | ENSP00000464032.1:n.*690A>G |
| ENST00000577427.1:c.775A>G | ENSP00000463387.1:p.Ile259Val |
| XM_005256751.2:c.535A>G | XP_005256808.1:p.Ile179Val |
| XM_005256751.4:c.535A>G | XP_005256808.1:p.Ile179Val |