Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129833529C>A , CM000668.2:g.129833529C>A | GRCh38 |
| NC_000006.11:g.130154674C>A , CM000668.1:g.130154674C>A | GRCh37 |
| NC_000006.10:g.130196367C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438392.3:c.250G>T | ENSP00000403755.1:p.Val84Phe | |
| ENST00000368143.6:c.250G>T MANE Select | ENSP00000357125.1:p.Val84Phe | |
| ENST00000368143.5:c.250G>T | ENSP00000357125.1:p.Val84Phe | |
| ENST00000438392.2:c.250G>T | ENSP00000403755.1:p.Val84Phe | |
| NM_001010876.1:c.250G>T | NP_001010876.1:p.Val84Phe | |
| XM_011535669.1:c.250G>T | XP_011533971.1:p.Val84Phe | |
| XM_011535669.3:c.250G>T | XP_011533971.1:p.Val84Phe | |
| NM_001010876.2:c.250G>T MANE Select | NP_001010876.1:p.Val84Phe |