Linked Data
ClinVar Variation Id:
96727
ClinVar RCV Id:
RCV000082874
dbSNP Id:
rs398124658
ExAC:
16:46702913 G / A
gnomAD v2:
16-46702913-G-A
gnomAD v3:
16-46669001-G-A
gnomAD v4:
16-46669001-G-A
COSMIC:
COSM3509663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.46669001G>A , CM000678.2:g.46669001G>A | GRCh38 |
| NC_000016.9:g.46702913G>A , CM000678.1:g.46702913G>A | GRCh37 |
| NC_000016.8:g.45260414G>A | NCBI36 |
| NG_029970.1:g.25232C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299138.12:c.1576C>T MANE Select | ENSP00000299138.7:p.Arg526Cys | |
| ENST00000647959.1:c.*1639C>T | ENSP00000497702.1:n.*1639C>T | |
| ENST00000299138.11:c.1576C>T | ENSP00000299138.7:p.Arg526Cys | |
| ENST00000562420.1:n.214C>T | ||
| ENST00000568784.6:c.*2246C>T | ENSP00000456274.2:n.*2246C>T | |
| NM_018206.4:c.1576C>T | NP_060676.2:p.Arg526Cys | |
| XM_005256045.2:c.1375C>T | XP_005256102.1:p.Arg459Cys | |
| XM_011523227.1:c.1489C>T | XP_011521529.1:p.Arg497Cys | |
| NM_018206.5:c.1576C>T | NP_060676.2:p.Arg526Cys | |
| XM_005256045.3:c.1375C>T | XP_005256102.1:p.Arg459Cys | |
| XM_011523227.3:c.1489C>T | XP_011521529.1:p.Arg497Cys | |
| NM_018206.6:c.1576C>T MANE Select | NP_060676.2:p.Arg526Cys |