Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1221208C>T , CM000667.2:g.1221208C>T | GRCh38 |
| NC_000005.9:g.1221323C>T , CM000667.1:g.1221323C>T | GRCh37 |
| NC_000005.8:g.1274323C>T | NCBI36 |
| NG_008282.1:g.24614C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001003841.3:c.1596C>T MANE Select | NP_001003841.1:p.Val532= |
| ENST00000304460.11:c.1596C>T MANE Select | ENSP00000305302.10:p.Val532= |
| NM_001003841.2:c.1596C>T | NP_001003841.1:p.Val532= |
| ENST00000304460.10:c.1596C>T | ENSP00000305302.10:p.Val532= |
| ENST00000515652.5:c.*541C>T | ENSP00000425701.1:n.*541C>T |