Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24954200T>A , CM000670.2:g.24954200T>A | GRCh38 |
| NC_000008.10:g.24811714T>A , CM000670.1:g.24811714T>A | GRCh37 |
| NC_000008.9:g.24867631T>A | NCBI36 |
| NG_008492.1:g.7418A>T , LRG_259:g.7418A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006158.5:c.1150A>T MANE Select | NP_006149.2:p.Ile384Phe |
| ENST00000610854.2:c.1150A>T MANE Select | ENSP00000482169.2:p.Ile384Phe |
| NM_006158.4:c.1150A>T , LRG_259t1:c.1150A>T | NP_006149.2:p.Ile384Phe |
| ENST00000610854.1:c.1150A>T | ENSP00000482169.1:p.Ile384Phe |
| ENST00000619417.1:c.*15A>T | ENSP00000483690.1:n.*15A>T |