Linked Data
ClinVar Variation Id:
2080879
ClinVar RCV Id:
RCV003002262
dbSNP Id:
rs1489416991
gnomAD v2:
12-122295326-A-G
gnomAD v4:
12-121857420-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121857420A>G , CM000674.2:g.121857420A>G | GRCh38 |
| NC_000012.11:g.122295326A>G , CM000674.1:g.122295326A>G | GRCh37 |
| NC_000012.10:g.120779709A>G | NCBI36 |
| NG_016461.1:g.36192T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289004.8:c.106T>C (HPD) MANE Select | ENSP00000289004.4:p.Tyr36His | |
| ENST00000535114.1:n.462T>C (HPD) | ||
| ENST00000542159.2:n.164T>C (HPD) | ||
| ENST00000543163.5:c.-12T>C (HPD) | ENSP00000441677.1:n.-12T>C | |
| NM_001171993.1:c.-12T>C (HPD) | NP_001165464.1:n.-12T>C | |
| NM_002150.2:c.106T>C (HPD) | NP_002141.1:p.Tyr36His | |
| XR_002957437.1:n.324-199A>G (TIALD) | ||
| NM_002150.3:c.106T>C (HPD) MANE Select | NP_002141.2:p.Tyr36His | |
| NM_001171993.2:c.-12T>C (HPD) | NP_001165464.1:n.-12T>C |