Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143452C>T , CM000666.2:g.185143452C>T | GRCh38 |
| NC_000004.11:g.186064606C>T , CM000666.1:g.186064606C>T | GRCh37 |
| NC_000004.10:g.186301600C>T | NCBI36 |
| NG_013001.1:g.5190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.80C>T MANE Select | ENSP00000281456.5:p.Ala27Val | |
| ENST00000281456.10:c.80C>T | ENSP00000281456.5:p.Ala27Val | |
| ENST00000491736.1:c.80C>T | ENSP00000476711.1:p.Ala27Val | |
| NM_001151.3:c.80C>T | NP_001142.2:p.Ala27Val | |
| NM_001151.4:c.80C>T MANE Select | NP_001142.2:p.Ala27Val |