Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28259658A>T , CM000668.2:g.28259658A>T | GRCh38 |
| NC_000006.11:g.28227436A>T , CM000668.1:g.28227436A>T | GRCh37 |
| NC_000006.10:g.28335415A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001007531.3:c.287A>T MANE Select | NP_001007532.1:p.Tyr96Phe |
| ENST00000343684.4:c.287A>T MANE Select | ENSP00000345716.3:p.Tyr96Phe |
| NM_001007531.2:c.287A>T | NP_001007532.1:p.Tyr96Phe |
| ENST00000343684.3:c.287A>T | ENSP00000345716.3:p.Tyr96Phe |