Linked Data
ClinVar Variation Id:
2523947
ClinVar RCV Id:
RCV003289891
dbSNP Id:
rs147200520
ExAC:
12:122295268 C / T
gnomAD v2:
12-122295268-C-T
gnomAD v3:
12-121857362-C-T
gnomAD v4:
12-121857362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857362C>T , CM000674.2:g.121857362C>T | GRCh38 |
| NC_000012.11:g.122295268C>T , CM000674.1:g.122295268C>T | GRCh37 |
| NC_000012.10:g.120779651C>T | NCBI36 |
| NG_016461.1:g.36250G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.164G>A (HPD) MANE Select | ENSP00000289004.4:p.Arg55Gln | |
| ENST00000535114.1:n.520G>A (HPD) | ||
| ENST00000542159.2:n.222G>A (HPD) | ||
| ENST00000543163.5:c.47G>A (HPD) | ENSP00000441677.1:p.Arg16Gln | |
| NM_001171993.1:c.47G>A (HPD) | NP_001165464.1:p.Arg16Gln | |
| NM_002150.2:c.164G>A (HPD) | NP_002141.1:p.Arg55Gln | |
| XR_002957437.1:n.324-257C>T (TIALD) | ||
| NM_002150.3:c.164G>A (HPD) MANE Select | NP_002141.2:p.Arg55Gln | |
| NM_001171993.2:c.47G>A (HPD) | NP_001165464.1:p.Arg16Gln |