Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33020582A>T , CM000682.2:g.33020582A>T | GRCh38 |
| NC_000020.10:g.31608388A>T , CM000682.1:g.31608388A>T | GRCh37 |
| NC_000020.9:g.31072049A>T | NCBI36 |
| NG_016714.1:g.17982A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025227.3:c.1189A>T MANE Select | NP_079503.1:p.Ile397Phe |
| ENST00000170150.4:c.1189A>T MANE Select | ENSP00000170150.3:p.Ile397Phe |
| NM_025227.2:c.1189A>T | NP_079503.1:p.Ile397Phe |
| ENST00000170150.3:c.1189A>T | ENSP00000170150.3:p.Ile397Phe |