Linked Data
dbSNP Id:
rs778286403
ExAC:
17:76219692 T / C
gnomAD v2:
17-76219692-T-C
gnomAD v4:
17-78223611-T-C
MyVariant Identifiers:
chr17:g.76219692T>C (hg19)
chr17:g.76219692_76219693delinsCC (hg19)
chr17:g.78223611T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78223611T>C , CM000679.2:g.78223611T>C | GRCh38 |
| NC_000017.10:g.76219692T>C , CM000679.1:g.76219692T>C | GRCh37 |
| NC_000017.9:g.73731287T>C | NCBI36 |
| NG_029069.1:g.14416T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350051.8:c.*57T>C MANE Select | ENSP00000324180.4:n.*57T>C | |
| ENST00000301633.8:c.*57T>C | ENSP00000301633.3:n.*57T>C | |
| ENST00000350051.7:c.*57T>C | ENSP00000324180.4:n.*57T>C | |
| ENST00000374948.6:c.368T>C | ENSP00000364086.1:p.Phe123Ser | |
| ENST00000589892.1:n.502T>C | ||
| NM_001012270.1:c.368T>C | NP_001012270.1:p.Phe123Ser | |
| NM_001012271.1:c.*57T>C | NP_001012271.1:n.*57T>C | |
| NM_001168.2:c.*57T>C | NP_001159.2:n.*57T>C | |
| XR_243654.3:n.688T>C | ||
| XR_934452.1:n.757T>C | ||
| XR_243654.5:n.688T>C | ||
| XR_934452.3:n.757T>C | ||
| NM_001168.3:c.*57T>C MANE Select | NP_001159.2:n.*57T>C | |
| NM_001012270.2:c.368T>C | NP_001012270.1:p.Phe123Ser | |
| NM_001012271.2:c.*57T>C | NP_001012271.1:n.*57T>C |