Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445477T>C , CM000673.2:g.2445477T>C | GRCh38 |
| NC_000011.9:g.2466707T>C , CM000673.1:g.2466707T>C | GRCh37 |
| NC_000011.8:g.2423283T>C | NCBI36 |
| NG_008935.1:g.5487T>C , LRG_287:g.5487T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000218.3:c.379T>C MANE Select | NP_000209.2:p.Phe127Leu |
| ENST00000155840.12:c.379T>C MANE Select | ENSP00000155840.2:p.Phe127Leu |
| NM_000218.2:c.379T>C , LRG_287t1:c.379T>C | NP_000209.2:p.Phe127Leu |
| ENST00000155840.9:c.379T>C | ENSP00000155840.2:p.Phe127Leu |
| ENST00000345015.4:n.156T>C | |
| ENST00000496887.6:c.118T>C | ENSP00000434560.1:p.Phe40Leu |
| ENST00000496887.7:c.118T>C | ENSP00000434560.2:p.Phe40Leu |
| ENST00000646564.1:c.25T>C | ENSP00000495806.1:p.Phe9Leu |
| ENST00000646564.2:c.379T>C | ENSP00000495806.2:p.Phe127Leu |