Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.36200273C>T , CM000680.2:g.36200273C>T | GRCh38 |
| NC_000018.9:g.33780236C>T , CM000680.1:g.33780236C>T | GRCh37 |
| NC_000018.8:g.32034234C>T | NCBI36 |
| NG_053177.1:g.18064C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017947.4:c.890C>T MANE Select | NP_060417.4:p.Ala297Val |
| ENST00000261326.6:c.890C>T MANE Select | ENSP00000261326.4:p.Ala297Val |
| NM_017947.2:c.890C>T | NP_060417.2:p.Ala297Val |
| NM_017947.3:c.890C>T | NP_060417.3:p.Ala297Val |
| ENST00000261326.5:c.890C>T | ENSP00000261326.4:p.Ala297Val |