Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213510C= , CM000667.2:g.1213510C= | GRCh38 |
| NC_000005.9:g.1213625C= , CM000667.1:g.1213625C= | GRCh37 |
| NC_000005.8:g.1266625C= | NCBI36 |
| NG_008282.1:g.16916C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.711C= MANE Select | ENSP00000305302.10:p.Phe237= | |
| ENST00000304460.10:c.711C= | ENSP00000305302.10:p.Phe237= | |
| ENST00000515652.5:c.619C= | ENSP00000425701.1:p.Pro207= | |
| NM_001003841.2:c.711C= | NP_001003841.1:p.Phe237= | |
| NM_001003841.3:c.711C= MANE Select | NP_001003841.1:p.Phe237= |