Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610780T>A , CM000668.2:g.1610780T>A | GRCh38 |
| NC_000006.11:g.1611015T>A , CM000668.1:g.1611015T>A | GRCh37 |
| NC_000006.10:g.1556014T>A | NCBI36 |
| NG_009368.1:g.5335T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001453.3:c.335T>A MANE Select | NP_001444.2:p.Phe112Tyr |
| ENST00000645831.2:c.335T>A MANE Select | ENSP00000493906.1:p.Phe112Tyr |
| NM_001453.2:c.335T>A | NP_001444.2:p.Phe112Tyr |
| ENST00000380874.3:c.335T>A | ENSP00000370256.2:p.Phe112Tyr |