Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445478T= , CM000673.2:g.2445478T= | GRCh38 |
| NC_000011.9:g.2466708T= , CM000673.1:g.2466708T= | GRCh37 |
| NC_000011.8:g.2423284T= | NCBI36 |
| NG_008935.1:g.5488T= , LRG_287:g.5488T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.119T= | ENSP00000434560.2:p.Phe40= | |
| ENST00000646564.2:c.380T= | ENSP00000495806.2:p.Phe127= | |
| ENST00000155840.12:c.380T= MANE Select | ENSP00000155840.2:p.Phe127= | |
| ENST00000646564.1:c.26T= | ENSP00000495806.1:p.Phe9= | |
| ENST00000155840.9:c.380T= | ENSP00000155840.2:p.Phe127= | |
| ENST00000345015.4:n.157T= | ||
| ENST00000496887.6:c.119T= | ENSP00000434560.1:p.Phe40= | |
| NM_000218.2:c.380T= , LRG_287t1:c.380T= | NP_000209.2:p.Phe127= | |
| NM_000218.3:c.380T= MANE Select | NP_000209.2:p.Phe127= |