Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610828A>T , CM000668.2:g.1610828A>T | GRCh38 |
| NC_000006.11:g.1611063A>T , CM000668.1:g.1611063A>T | GRCh37 |
| NC_000006.10:g.1556062A>T | NCBI36 |
| NG_009368.1:g.5383A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.383A>T MANE Select | ENSP00000493906.1:p.His128Leu | |
| ENST00000380874.3:c.383A>T | ENSP00000370256.2:p.His128Leu | |
| NM_001453.2:c.383A>T | NP_001444.2:p.His128Leu | |
| NM_001453.3:c.383A>T MANE Select | NP_001444.2:p.His128Leu |