Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66177389G>T , CM000670.2:g.66177389G>T | GRCh38 |
| NC_000008.10:g.67089624G>T , CM000670.1:g.67089624G>T | GRCh37 |
| NC_000008.9:g.67252178G>T | NCBI36 |
| NG_016127.1:g.6075C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000756.4:c.89C>A MANE Select | NP_000747.1:p.Pro30Gln |
| ENST00000276571.5:c.89C>A MANE Select | ENSP00000276571.3:p.Pro30Gln |
| NM_000756.2:c.89C>A | NP_000747.1:p.Pro30Gln |
| NM_000756.3:c.89C>A | NP_000747.1:p.Pro30Gln |
| ENST00000276571.4:c.89C>A | ENSP00000276571.3:p.Pro30Gln |