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