Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857396G>T , CM000674.2:g.121857396G>T | GRCh38 |
| NC_000012.11:g.122295302G>T , CM000674.1:g.122295302G>T | GRCh37 |
| NC_000012.10:g.120779685G>T | NCBI36 |
| NG_016461.1:g.36216C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.130C>A (HPD) MANE Select | ENSP00000289004.4:p.Pro44Thr | |
| ENST00000535114.1:n.486C>A (HPD) | ||
| ENST00000542159.2:n.188C>A (HPD) | ||
| ENST00000543163.5:c.13C>A (HPD) | ENSP00000441677.1:p.Pro5Thr | |
| NM_001171993.1:c.13C>A (HPD) | NP_001165464.1:p.Pro5Thr | |
| NM_002150.2:c.130C>A (HPD) | NP_002141.1:p.Pro44Thr | |
| XR_002957437.1:n.324-223G>T (TIALD) | ||
| NM_002150.3:c.130C>A (HPD) MANE Select | NP_002141.2:p.Pro44Thr | |
| NM_001171993.2:c.13C>A (HPD) | NP_001165464.1:p.Pro5Thr |