Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1801513C>A , CM000667.2:g.1801513C>A | GRCh38 |
| NC_000005.9:g.1801627C>A , CM000667.1:g.1801627C>A | GRCh37 |
| NC_000005.8:g.1854627C>A | NCBI36 |
| NG_013354.1:g.5132C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274137.10:c.96C>A MANE Select | ENSP00000274137.6:p.Val32= | |
| ENST00000274137.9:c.96C>A | ENSP00000274137.5:p.Val32= | |
| ENST00000469176.1:c.96C>A | ENSP00000422557.1:p.Val32= | |
| ENST00000510329.1:n.93C>A | ||
| NM_004553.4:c.96C>A | NP_004544.1:p.Val32= | |
| NM_004553.6:c.96C>A MANE Select | NP_004544.1:p.Val32= |