Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102864194A>T , CM000673.2:g.102864194A>T | GRCh38 |
| NC_000011.9:g.102734925A>T , CM000673.1:g.102734925A>T | GRCh37 |
| NC_000011.8:g.102240135A>T | NCBI36 |
| NG_032936.1:g.15841T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000571244.3:c.1264T>A MANE Select | ENSP00000458585.1:p.Phe422Ile | |
| ENST00000571244.2:c.1264T>A | ENSP00000458585.1:p.Phe422Ile | |
| NM_002426.4:c.1264T>A | NP_002417.2:p.Phe422Ile | |
| NM_002426.5:c.1264T>A | NP_002417.2:p.Phe422Ile | |
| NM_002426.6:c.1264T>A MANE Select | NP_002417.2:p.Phe422Ile |