Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96338220C>T , CM000672.2:g.96338220C>T | GRCh38 |
| NC_000010.10:g.98097977C>T , CM000672.1:g.98097977C>T | GRCh37 |
| NC_000010.9:g.98087967C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004088.4:c.1526C>T MANE Select | NP_004079.3:p.Ala509Val |
| ENST00000371174.5:c.1526C>T MANE Select | ENSP00000360216.2:p.Ala509Val |
| NM_001017520.1:c.1523C>T | NP_001017520.1:p.Ala508Val |
| NM_001017520.2:c.1523C>T | NP_001017520.1:p.Ala508Val |
| NM_004088.3:c.1526C>T | NP_004079.3:p.Ala509Val |
| ENST00000371174.4:c.1526C>T | ENSP00000360216.2:p.Ala509Val |
| ENST00000630152.1:c.1523C>T | ENSP00000486733.1:p.Ala508Val |