Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121846926A= , CM000674.2:g.121846926A= | GRCh38 |
| NC_000012.11:g.122284832A= , CM000674.1:g.122284832A= | GRCh37 |
| NC_000012.10:g.120769215A= | NCBI36 |
| NG_016461.1:g.46686T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.767T= MANE Select | ENSP00000289004.4:p.Val256= | |
| ENST00000543163.5:c.650T= | ENSP00000441677.1:p.Val217= | |
| NM_001171993.1:c.650T= | NP_001165464.1:p.Val217= | |
| NM_002150.2:c.767T= | NP_002141.1:p.Val256= | |
| NM_002150.3:c.767T= MANE Select | NP_002141.2:p.Val256= | |
| NM_001171993.2:c.650T= | NP_001165464.1:p.Val217= |