Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21000992T>A , CM000676.2:g.21000992T>A | GRCh38 |
| NC_000014.8:g.21469151T>A , CM000676.1:g.21469151T>A | GRCh37 |
| NC_000014.7:g.20538991T>A | NCBI36 |
| NG_017065.1:g.6738T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014579.4:c.343T>A MANE Select | NP_055394.2:p.Phe115Ile |
| ENST00000298681.5:c.343T>A MANE Select | ENSP00000298681.4:p.Phe115Ile |
| NM_001256588.1:c.*80T>A | NP_001243517.1:n.*80T>A |
| NM_001256588.2:c.*80T>A | NP_001243517.1:n.*80T>A |
| NM_014579.3:c.343T>A | NP_055394.2:p.Phe115Ile |
| ENST00000298681.4:c.343T>A | ENSP00000298681.4:p.Phe115Ile |
| ENST00000554422.5:c.*80T>A | ENSP00000452568.1:n.*80T>A |