Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832827C= , CM000673.2:g.116832827C= | GRCh38 |
| NC_000011.9:g.116703543C= , CM000673.1:g.116703543C= | GRCh37 |
| NC_000011.8:g.116208753C= | NCBI36 |
| NG_008949.1:g.7920C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.243C= MANE Select | ENSP00000227667.2:p.Phe81= | |
| ENST00000227667.7:c.243C= | ENSP00000227667.2:p.Phe81= | |
| ENST00000375345.3:c.297C= | ENSP00000364494.1:p.Phe99= | |
| ENST00000630701.1:c.297C= | ENSP00000486182.1:p.Phe99= | |
| NM_000040.1:c.243C= | NP_000031.1:p.Phe81= | |
| NM_000040.2:c.243C= | NP_000031.1:p.Phe81= | |
| NM_000040.3:c.243C= MANE Select | NP_000031.1:p.Phe81= |