Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87015840C>A , CM000668.2:g.87015840C>A | GRCh38 |
| NC_000006.11:g.87725558C>A , CM000668.1:g.87725558C>A | GRCh37 |
| NC_000006.10:g.87782277C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305344.7:c.506C>A MANE Select | ENSP00000307766.4:p.Pro169His | |
| ENST00000305344.6:c.506C>A | ENSP00000307766.4:p.Pro169His | |
| NM_000865.2:c.506C>A | NP_000856.1:p.Pro169His | |
| XM_011535789.1:c.506C>A | XP_011534091.1:p.Pro169His | |
| XM_011535790.1:c.506C>A | XP_011534092.1:p.Pro169His | |
| XM_011535789.2:c.506C>A | XP_011534091.1:p.Pro169His | |
| NM_000865.3:c.506C>A MANE Select | NP_000856.1:p.Pro169His |