Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.77794529G>A , CM000671.2:g.77794529G>A | GRCh38 |
| NC_000009.11:g.80409445G>A , CM000671.1:g.80409445G>A | GRCh37 |
| NC_000009.10:g.79599265G>A | NCBI36 |
| NG_027904.2:g.241775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286548.9:c.669C>T MANE Select | ENSP00000286548.4:p.Val223= | |
| ENST00000286548.8:c.669C>T | ENSP00000286548.4:p.Val223= | |
| NM_002072.4:c.669C>T | NP_002063.2:p.Val223= | |
| XM_017014628.2:c.495C>T | XP_016870117.1:p.Val165= | |
| NM_002072.5:c.669C>T MANE Select | NP_002063.2:p.Val223= |