Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733553C= , CM000679.2:g.47733553C= | GRCh38 |
| NC_000017.10:g.45810919C= , CM000679.1:g.45810919C= | GRCh37 |
| NC_000017.9:g.43165918C= | NCBI36 |
| NG_012166.1:g.5310C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013351.2:c.99C= MANE Select | NP_037483.1:p.His33= |
| ENST00000177694.2:c.99C= MANE Select | ENSP00000177694.1:p.His33= |
| NM_013351.1:c.99C= | NP_037483.1:p.His33= |
| ENST00000177694.1:c.99C= | ENSP00000177694.1:p.His33= |
| ENST00000581328.1:n.129C= | |
| XM_011524698.1:c.99C= | XP_011523000.1:p.His33= |