Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134148585G>T , CM000673.2:g.134148585G>T | GRCh38 |
| NC_000011.9:g.134018480G>T , CM000673.1:g.134018480G>T | GRCh37 |
| NC_000011.8:g.133523690G>T | NCBI36 |
| NG_028348.1:g.84661G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299106.9:c.751G>T MANE Select | ENSP00000299106.4:p.Val251Phe | |
| ENST00000299106.8:c.751G>T | ENSP00000299106.4:p.Val251Phe | |
| ENST00000441717.3:c.598G>T | ENSP00000395742.3:p.Val200Phe | |
| ENST00000533711.1:n.788G>T | ||
| NM_001205329.1:c.598G>T | NP_001192258.1:p.Val200Phe | |
| NM_032801.4:c.751G>T | NP_116190.3:p.Val251Phe | |
| NM_032801.5:c.751G>T MANE Select | NP_116190.3:p.Val251Phe | |
| NM_001205329.2:c.598G>T | NP_001192258.1:p.Val200Phe |