Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213516C= , CM000667.2:g.1213516C= | GRCh38 |
| NC_000005.9:g.1213631C= , CM000667.1:g.1213631C= | GRCh37 |
| NC_000005.8:g.1266631C= | NCBI36 |
| NG_008282.1:g.16922C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.717C= MANE Select | ENSP00000305302.10:p.Ile239= | |
| ENST00000304460.10:c.717C= | ENSP00000305302.10:p.Ile239= | |
| ENST00000515652.5:c.625C= | ENSP00000425701.1:p.Pro209= | |
| NM_001003841.2:c.717C= | NP_001003841.1:p.Ile239= | |
| NM_001003841.3:c.717C= MANE Select | NP_001003841.1:p.Ile239= |