Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.62817069C>T , CM000682.2:g.62817069C>T | GRCh38 |
| NC_000020.10:g.61448421C>T , CM000682.1:g.61448421C>T | GRCh37 |
| NC_000020.9:g.60918866C>T | NCBI36 |
| NG_016353.1:g.5008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649368.1:c.5C>T MANE Select | ENSP00000496793.1:p.Ala2Val | |
| ENST00000343916.7:c.5C>T | ENSP00000341640.3:p.Ala2Val | |
| ENST00000477612.5:n.75-498C>T | ||
| NM_001853.3:c.5C>T | NP_001844.3:p.Ala2Val | |
| XM_011528543.1:c.5C>T | XP_011526845.1:p.Ala2Val | |
| XM_011528545.1:c.5C>T | XP_011526847.1:p.Ala2Val | |
| XM_011528546.1:c.5C>T | XP_011526848.1:p.Ala2Val | |
| XM_011528547.1:c.5C>T | XP_011526849.1:p.Ala2Val | |
| XR_936499.1:n.6C>T | ||
| NM_001853.4:c.5C>T MANE Select | NP_001844.3:p.Ala2Val | |
| XM_017027666.1:c.5C>T | XP_016883155.1:p.Ala2Val |