Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794531C>T , CM000671.2:g.77794531C>T | GRCh38 |
| NC_000009.11:g.80409447C>T , CM000671.1:g.80409447C>T | GRCh37 |
| NC_000009.10:g.79599267C>T | NCBI36 |
| NG_027904.2:g.241773G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.667G>A MANE Select | ENSP00000286548.4:p.Val223Ile | |
| ENST00000286548.8:c.667G>A | ENSP00000286548.4:p.Val223Ile | |
| NM_002072.4:c.667G>A | NP_002063.2:p.Val223Ile | |
| XM_017014628.2:c.493G>A | XP_016870117.1:p.Val165Ile | |
| NM_002072.5:c.667G>A MANE Select | NP_002063.2:p.Val223Ile |