Linked Data
ClinVar Variation Id:
2198941
dbSNP Id:
rs1012152414
ExAC:
17:41063346 C / G
gnomAD v2:
17-41063346-C-G
gnomAD v3:
17-42911329-C-G
gnomAD v4:
17-42911329-C-G
MyVariant Identifiers:
chr17:g.41063346C>G (hg19)
chr17:g.41063346_41063349delinsGCTT (hg19)
chr17:g.42911329C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911329C>G , CM000679.2:g.42911329C>G | GRCh38 |
| NC_000017.10:g.41063346C>G , CM000679.1:g.41063346C>G | GRCh37 |
| NC_000017.9:g.38316872C>G | NCBI36 |
| NG_011808.1:g.15532C>G , LRG_147:g.15532C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.977C>G MANE Select | ENSP00000253801.1:p.Ser326Cys | |
| ENST00000253801.6:c.977C>G | ENSP00000253801.1:p.Ser326Cys | |
| ENST00000585489.1:c.*369C>G | ENSP00000466202.1:n.*369C>G | |
| ENST00000592383.5:c.*369C>G | ENSP00000465958.1:n.*369C>G | |
| NM_000151.3:c.977C>G | NP_000142.2:p.Ser326Cys | |
| NM_001270397.1:c.*369C>G | NP_001257326.1:n.*369C>G | |
| NM_000151.4:c.977C>G MANE Select | NP_000142.2:p.Ser326Cys | |
| NM_001270397.2:c.*369C>G | NP_001257326.1:n.*369C>G |