Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213467T= , CM000667.2:g.1213467T= | GRCh38 |
| NC_000005.9:g.1213582T= , CM000667.1:g.1213582T= | GRCh37 |
| NC_000005.8:g.1266582T= | NCBI36 |
| NG_008282.1:g.16873T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.668T= MANE Select | ENSP00000305302.10:p.Val223= | |
| ENST00000304460.10:c.668T= | ENSP00000305302.10:p.Val223= | |
| ENST00000515652.5:c.576T= | ENSP00000425701.1:p.Arg192= | |
| NM_001003841.2:c.668T= | NP_001003841.1:p.Val223= | |
| NM_001003841.3:c.668T= MANE Select | NP_001003841.1:p.Val223= |