Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339668G= , CM000677.2:g.74339668G= | GRCh38 |
| NC_000015.9:g.74632009G= , CM000677.1:g.74632009G= | GRCh37 |
| NC_000015.8:g.72419062G= | NCBI36 |
| NG_007973.1:g.33074C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000781.3:c.1076C= MANE Select | NP_000772.2:p.Ala359= |
| ENST00000268053.11:c.1076C= MANE Select | ENSP00000268053.6:p.Ala359= |
| NM_000781.2:c.1076C= | NP_000772.2:p.Ala359= |
| NM_001099773.1:c.602C= | NP_001093243.1:p.Ala201= |
| NM_001099773.2:c.602C= | NP_001093243.1:p.Ala201= |
| ENST00000268053.10:c.1076C= | ENSP00000268053.6:p.Ala359= |
| ENST00000358632.8:c.602C= | ENSP00000351455.4:p.Ala201= |
| ENST00000435365.5:c.1076C= | ENSP00000391081.1:p.Ala359= |
| ENST00000566674.5:c.602C= | ENSP00000456941.1:p.Ala201= |