Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66177389G= , CM000670.2:g.66177389G= | GRCh38 |
| NC_000008.10:g.67089624G= , CM000670.1:g.67089624G= | GRCh37 |
| NC_000008.9:g.67252178G= | NCBI36 |
| NG_016127.1:g.6075C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000756.4:c.89C= MANE Select | NP_000747.1:p.Pro30= |
| ENST00000276571.5:c.89C= MANE Select | ENSP00000276571.3:p.Pro30= |
| NM_000756.2:c.89C= | NP_000747.1:p.Pro30= |
| NM_000756.3:c.89C= | NP_000747.1:p.Pro30= |
| ENST00000276571.4:c.89C= | ENSP00000276571.3:p.Pro30= |