Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8189375T>C , CM000679.2:g.8189375T>C | GRCh38 |
| NC_000017.10:g.8092693T>C , CM000679.1:g.8092693T>C | GRCh37 |
| NC_000017.9:g.8033418T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389017.6:c.766A>G MANE Select | ENSP00000373669.4:p.Ile256Val | |
| ENST00000389017.5:c.766A>G | ENSP00000373669.4:p.Ile256Val | |
| ENST00000622992.1:c.125T>C | ENSP00000485311.1:p.Ile42Thr | |
| NM_017622.2:c.766A>G | NP_060092.2:p.Ile256Val | |
| NM_017622.3:c.766A>G MANE Select | NP_060092.2:p.Ile256Val |