Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42075670G>A , CM000666.2:g.42075670G>A | GRCh38 |
| NC_000004.11:g.42077687G>A , CM000666.1:g.42077687G>A | GRCh37 |
| NC_000004.10:g.41772444G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264451.12:c.1432G>A MANE Select | ENSP00000264451.6:p.Val478Ile | |
| ENST00000264451.11:c.1432G>A | ENSP00000264451.6:p.Val478Ile | |
| ENST00000505523.1:n.284G>A | ||
| ENST00000509683.5:n.322G>A | ||
| ENST00000513699.5:c.*1189G>A | ENSP00000423529.1:n.*1189G>A | |
| NM_006345.3:c.1432G>A | NP_006336.3:p.Val478Ile | |
| XM_017007654.2:c.1432G>A | XP_016863143.1:p.Val478Ile | |
| XR_001741095.2:n.1647G>A | ||
| NM_006345.4:c.1432G>A MANE Select | NP_006336.3:p.Val478Ile |