Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.23191828T>A , CM000670.2:g.23191828T>A | GRCh38 |
| NC_000008.10:g.23049341T>A , CM000670.1:g.23049341T>A | GRCh37 |
| NC_000008.9:g.23105286T>A | NCBI36 |
| NG_032107.1:g.38340A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221132.8:c.1273A>T MANE Select | ENSP00000221132.3:p.Ile425Phe | |
| ENST00000221132.7:c.1273A>T | ENSP00000221132.3:p.Ile425Phe | |
| ENST00000519862.1:n.328A>T | ||
| ENST00000613472.1:c.799A>T | ENSP00000480778.1:p.Ile267Phe | |
| NM_003844.3:c.1273A>T | NP_003835.3:p.Ile425Phe | |
| NM_003844.4:c.1273A>T MANE Select | NP_003835.3:p.Ile425Phe |