Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76732997C>T , CM000667.2:g.76732997C>T | GRCh38 |
| NC_000005.9:g.76028822C>T , CM000667.1:g.76028822C>T | GRCh37 |
| NC_000005.8:g.76064578C>T | NCBI36 |
| NG_032906.1:g.21955C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001992.5:c.772C>T MANE Select | NP_001983.2:p.Leu258Phe |
| ENST00000319211.5:c.772C>T MANE Select | ENSP00000321326.4:p.Leu258Phe |
| NM_001311313.1:c.409C>T | NP_001298242.1:p.Leu137Phe |
| NM_001311313.2:c.409C>T | NP_001298242.1:p.Leu137Phe |
| NM_001992.3:c.772C>T | NP_001983.2:p.Leu258Phe |
| NM_001992.4:c.772C>T | NP_001983.2:p.Leu258Phe |
| ENST00000319211.4:c.772C>T | ENSP00000321326.4:p.Leu258Phe |