Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17721313G>A , CM000673.2:g.17721313G>A | GRCh38 |
| NC_000011.9:g.17742860G>A , CM000673.1:g.17742860G>A | GRCh37 |
| NC_000011.8:g.17699436G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250003.4:c.768G>A MANE Select | ENSP00000250003.3:p.Val256= | |
| ENST00000250003.3:c.768G>A | ENSP00000250003.3:p.Val256= | |
| NM_002478.4:c.768G>A | NP_002469.2:p.Val256= | |
| NM_002478.5:c.768G>A MANE Select | NP_002469.2:p.Val256= |