Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185146939G= , CM000666.2:g.185146939G= | GRCh38 |
| NC_000004.11:g.186068093G= , CM000666.1:g.186068093G= | GRCh37 |
| NC_000004.10:g.186305087G= | NCBI36 |
| NG_013001.1:g.8677G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001151.4:c.865G= MANE Select | NP_001142.2:p.Val289= |
| ENST00000281456.11:c.865G= MANE Select | ENSP00000281456.5:p.Val289= |
| NM_001151.3:c.865G= | NP_001142.2:p.Val289= |
| ENST00000281456.10:c.865G= | ENSP00000281456.5:p.Val289= |
| ENST00000491736.1:c.*642G= | ENSP00000476711.1:n.*642G= |