Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8086140G= , CM000679.2:g.8086140G= | GRCh38 |
| NC_000017.10:g.7989458G= , CM000679.1:g.7989458G= | GRCh37 |
| NC_000017.9:g.7930183G= | NCBI36 |
| NG_007099.1:g.6564C= | |
| NG_007099.2:g.6577C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647874.1:c.228C= MANE Select | ENSP00000497784.1:p.Phe76= | |
| ENST00000319144.4:c.228C= | ENSP00000315167.4:p.Phe76= | |
| NM_001139.2:c.228C= | NP_001130.1:p.Phe76= | |
| NM_001139.3:c.228C= MANE Select | NP_001130.1:p.Phe76= |