Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24261803A>G , CM000676.2:g.24261803A>G | GRCh38 |
| NC_000014.8:g.24731009A>G , CM000676.1:g.24731009A>G | GRCh37 |
| NC_000014.7:g.23800849A>G | NCBI36 |
| NG_007150.1:g.6364T>C | |
| NG_007150.2:g.6364T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000359.3:c.400T>C MANE Select | NP_000350.1:p.Tyr134His |
| ENST00000206765.11:c.400T>C MANE Select | ENSP00000206765.6:p.Tyr134His |
| NM_000359.2:c.400T>C | NP_000350.1:p.Tyr134His |
| ENST00000206765.10:c.400T>C | ENSP00000206765.6:p.Tyr134His |
| ENST00000544573.5:c.-29+324T>C | ENSP00000439446.1:n.-29+324T>C |
| ENST00000558074.1:c.400T>C | ENSP00000453840.1:p.Tyr134His |