Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652000C= , CM000674.2:g.52652000C= | GRCh38 |
| NC_000012.11:g.53045784C= , CM000674.1:g.53045784C= | GRCh37 |
| NC_000012.10:g.51332051C= | NCBI36 |
| NG_008296.1:g.5176G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.143G= MANE Select | ENSP00000310861.3:p.Gly48= | |
| ENST00000309680.3:c.143G= | ENSP00000310861.3:p.Gly48= | |
| NM_000423.2:c.143G= | NP_000414.2:p.Gly48= | |
| NM_000423.3:c.143G= MANE Select | NP_000414.2:p.Gly48= |