Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857392A>C , CM000674.2:g.121857392A>C | GRCh38 |
| NC_000012.11:g.122295298A>C , CM000674.1:g.122295298A>C | GRCh37 |
| NC_000012.10:g.120779681A>C | NCBI36 |
| NG_016461.1:g.36220T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.134T>G (HPD) MANE Select | ENSP00000289004.4:p.Leu45Arg | |
| ENST00000535114.1:n.490T>G (HPD) | ||
| ENST00000542159.2:n.192T>G (HPD) | ||
| ENST00000543163.5:c.17T>G (HPD) | ENSP00000441677.1:p.Leu6Arg | |
| NM_001171993.1:c.17T>G (HPD) | NP_001165464.1:p.Leu6Arg | |
| NM_002150.2:c.134T>G (HPD) | NP_002141.1:p.Leu45Arg | |
| XR_002957437.1:n.324-227A>C (TIALD) | ||
| NM_002150.3:c.134T>G (HPD) MANE Select | NP_002141.2:p.Leu45Arg | |
| NM_001171993.2:c.17T>G (HPD) | NP_001165464.1:p.Leu6Arg |