Linked Data
ClinVar Variation Id:
3059094
ClinVar RCV Id:
RCV003979686
dbSNP Id:
rs76221565
ExAC:
17:79214927 C / T
gnomAD v2:
17-79214927-C-T
gnomAD v3:
17-81241127-C-T
gnomAD v4:
17-81241127-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81241127C>T , CM000679.2:g.81241127C>T | GRCh38 |
| NC_000017.10:g.79214927C>T , CM000679.1:g.79214927C>T | GRCh37 |
| NC_000017.9:g.76829522C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431388.3:c.*111C>T MANE Select | ENSP00000400184.2:n.*111C>T | |
| ENST00000431388.2:c.*111C>T | ENSP00000400184.2:n.*111C>T | |
| ENST00000573090.1:n.654C>T | ||
| ENST00000573173.1:n.667C>T | ||
| ENST00000576002.1:c.213C>T | ||
| NM_001086521.1:c.*111C>T | NP_001079990.1:n.*111C>T | |
| NM_001353402.1:c.340C>T | NP_001340331.1:p.Arg114Ter | |
| NM_001353403.1:c.178C>T | NP_001340332.1:p.Arg60Ter | |
| NR_148426.1:n.667C>T | ||
| NM_001086521.2:c.*111C>T MANE Select | NP_001079990.1:n.*111C>T |