Linked Data
dbSNP Id:
rs1352170172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857339T>G , CM000674.2:g.121857339T>G | GRCh38 |
| NC_000012.11:g.122295245T>G , CM000674.1:g.122295245T>G | GRCh37 |
| NC_000012.10:g.120779628T>G | NCBI36 |
| NG_016461.1:g.36273A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.187A>C (HPD) MANE Select | ENSP00000289004.4:p.Lys63Gln | |
| ENST00000535114.1:n.543A>C (HPD) | ||
| ENST00000542159.2:n.245A>C (HPD) | ||
| ENST00000543163.5:c.70A>C (HPD) | ENSP00000441677.1:p.Lys24Gln | |
| NM_001171993.1:c.70A>C (HPD) | NP_001165464.1:p.Lys24Gln | |
| NM_002150.2:c.187A>C (HPD) | NP_002141.1:p.Lys63Gln | |
| XR_002957437.1:n.324-280T>G (TIALD) | ||
| NM_002150.3:c.187A>C (HPD) MANE Select | NP_002141.2:p.Lys63Gln | |
| NM_001171993.2:c.70A>C (HPD) | NP_001165464.1:p.Lys24Gln |