Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213507C= , CM000667.2:g.1213507C= | GRCh38 |
| NC_000005.9:g.1213622C= , CM000667.1:g.1213622C= | GRCh37 |
| NC_000005.8:g.1266622C= | NCBI36 |
| NG_008282.1:g.16913C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.708C= MANE Select | ENSP00000305302.10:p.Ile236= | |
| ENST00000304460.10:c.708C= | ENSP00000305302.10:p.Ile236= | |
| ENST00000515652.5:c.616C= | ENSP00000425701.1:p.Leu206= | |
| NM_001003841.2:c.708C= | NP_001003841.1:p.Ile236= | |
| NM_001003841.3:c.708C= MANE Select | NP_001003841.1:p.Ile236= |