Linked Data
ClinVar Variation Id:
445808
ClinVar RCV Id:
RCV000514416
dbSNP Id:
rs35276012
ExAC:
17:26685983 T / C
gnomAD v2:
17-26685983-T-C
gnomAD v3:
17-28358960-T-C
gnomAD v4:
17-28358960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28358960T>C , CM000679.2:g.28358960T>C | GRCh38 |
| NC_000017.10:g.26685983T>C , CM000679.1:g.26685983T>C | GRCh37 |
| NC_000017.9:g.23710110T>C | NCBI36 |
| NG_046803.1:g.6380T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292114.8:c.256T>C MANE Select | ENSP00000292114.3:p.Tyr86His | |
| ENST00000292114.7:c.256T>C | ENSP00000292114.3:p.Tyr86His | |
| ENST00000395404.7:c.-237-355T>C | ENSP00000465232.1:n.-237-355T>C | |
| ENST00000483505.6:n.219T>C | ||
| ENST00000555264.6:c.256T>C | ENSP00000462356.1:p.Tyr86His | |
| ENST00000580868.5:c.236-355T>C | ENSP00000462195.1:n.236-355T>C | |
| ENST00000581386.5:n.270T>C | ||
| NM_152464.2:c.256T>C | NP_689677.1:p.Tyr86His | |
| NM_152464.3:c.256T>C MANE Select | NP_689677.1:p.Tyr86His |