Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151266764C>T , CM000667.2:g.151266764C>T | GRCh38 |
| NC_000005.9:g.150646325C>T , CM000667.1:g.150646325C>T | GRCh37 |
| NC_000005.8:g.150626518C>T | NCBI36 |
| NG_009059.1:g.18713C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000405.5:c.277C>T MANE Select | NP_000396.2:p.Leu93Phe |
| ENST00000357164.4:c.277C>T MANE Select | ENSP00000349687.3:p.Leu93Phe |
| NM_000405.4:c.277C>T | NP_000396.2:p.Leu93Phe |
| NM_001167607.1:c.277C>T | NP_001161079.1:p.Leu93Phe |
| NM_001167607.2:c.277C>T | NP_001161079.1:p.Leu93Phe |
| NM_001167607.3:c.277C>T | NP_001161079.1:p.Leu93Phe |
| ENST00000357164.3:c.277C>T | ENSP00000349687.3:p.Leu93Phe |
| ENST00000523004.1:c.152C>T | |
| ENST00000523466.5:c.322C>T | ENSP00000429100.1:p.Leu108Phe |