Linked Data
ClinVar Variation Id:
7595
ClinVar RCV Id:
RCV000008033
dbSNP Id:
rs121909135
gnomAD v3:
1-16051544-T-C
gnomAD v4:
1-16051544-T-C
PubMed:
PMID:9326936
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16051544T>C , CM000663.2:g.16051544T>C | GRCh38 |
| NC_000001.10:g.16378039T>C , CM000663.1:g.16378039T>C | GRCh37 |
| NC_000001.9:g.16250626T>C | NCBI36 |
| NG_013079.1:g.12793T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682338.1:c.1294T>C | ENSP00000507062.1:p.Tyr432His | |
| ENST00000682793.1:c.1294T>C | ENSP00000506910.1:p.Tyr432His | |
| ENST00000682838.1:c.*1036T>C | ENSP00000507652.1:n.*1036T>C | |
| ENST00000683578.1:c.1294T>C | ENSP00000507430.1:p.Tyr432His | |
| ENST00000683606.1:n.909T>C | ||
| ENST00000683661.1:n.2829T>C | ||
| ENST00000684324.1:c.1294T>C | ENSP00000507937.1:p.Tyr432His | |
| ENST00000684545.1:c.1294T>C | ENSP00000506733.1:p.Tyr432His | |
| ENST00000684624.1:n.671T>C | ||
| ENST00000684714.1:c.1294T>C | ENSP00000506861.1:p.Tyr432His | |
| ENST00000684731.1:n.755T>C | ||
| ENST00000375679.9:c.1294T>C MANE Select | ENSP00000364831.5:p.Tyr432His | |
| ENST00000375667.7:c.787T>C | ENSP00000364819.3:p.Tyr263His | |
| ENST00000375679.8:c.1294T>C | ENSP00000364831.4:p.Tyr432His | |
| ENST00000619181.4:c.913T>C | ENSP00000483866.1:p.Tyr305His | |
| NM_000085.4:c.1294T>C | NP_000076.2:p.Tyr432His | |
| NM_001165945.2:c.787T>C | NP_001159417.2:p.Tyr263His | |
| XM_011540619.1:c.1135T>C | XP_011538921.1:p.Tyr379His | |
| XM_011540620.1:c.1294T>C | XP_011538922.1:p.Tyr432His | |
| XM_011540621.1:c.643T>C | XP_011538923.1:p.Tyr215His | |
| NM_000085.5:c.1294T>C MANE Select | NP_000076.2:p.Tyr432His |