Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66177389G>A , CM000670.2:g.66177389G>A | GRCh38 |
| NC_000008.10:g.67089624G>A , CM000670.1:g.67089624G>A | GRCh37 |
| NC_000008.9:g.67252178G>A | NCBI36 |
| NG_016127.1:g.6075C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000756.4:c.89C>T MANE Select | NP_000747.1:p.Pro30Leu |
| ENST00000276571.5:c.89C>T MANE Select | ENSP00000276571.3:p.Pro30Leu |
| NM_000756.2:c.89C>T | NP_000747.1:p.Pro30Leu |
| NM_000756.3:c.89C>T | NP_000747.1:p.Pro30Leu |
| ENST00000276571.4:c.89C>T | ENSP00000276571.3:p.Pro30Leu |