Linked Data
ClinVar Variation Id:
224816
ClinVar RCV Id:
RCV000210400
dbSNP Id:
rs869312866
PubMed:
PMID:26350515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67320674G>T , CM000678.2:g.67320674G>T | GRCh38 |
| NC_000016.9:g.67354577G>T , CM000678.1:g.67354577G>T | GRCh37 |
| NC_000016.8:g.65912078G>T | NCBI36 |
| NG_053040.1:g.11085C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304372.6:c.215C>A MANE Select | ENSP00000305702.5:p.Thr72Asn | |
| ENST00000304372.5:c.215C>A | ENSP00000305702.5:p.Thr72Asn | |
| ENST00000561625.1:n.247C>A | ||
| ENST00000562721.1:c.*157C>A | ENSP00000462122.1:n.*157C>A | |
| ENST00000562860.1:n.117C>A | ||
| ENST00000566295.1:c.200C>A | ENSP00000462732.1:p.Thr67Asn | |
| ENST00000566392.5:n.261C>A | ||
| ENST00000567976.1:c.200C>A | ENSP00000458045.1:p.Thr67Asn | |
| ENST00000568736.5:n.268C>A | ||
| ENST00000569333.5:n.237C>A | ||
| ENST00000570049.5:n.234C>A | ||
| NM_001100915.1:c.215C>A | NP_001094385.1:p.Thr72Asn | |
| XM_005255808.3:c.215C>A | XP_005255865.1:p.Thr72Asn | |
| XM_006721143.2:c.200C>A | XP_006721206.1:p.Thr67Asn | |
| XM_011522876.1:c.200C>A | XP_011521178.1:p.Thr67Asn | |
| XM_011522877.1:c.215C>A | XP_011521179.1:p.Thr72Asn | |
| XM_011522878.1:c.-321C>A | XP_011521180.1:n.-321C>A | |
| XM_011522879.1:c.-115C>A | XP_011521181.1:n.-115C>A | |
| XM_011522880.1:c.-970C>A | XP_011521182.1:n.-970C>A | |
| NM_001100915.2:c.215C>A | NP_001094385.1:p.Thr72Asn | |
| NM_001100915.3:c.215C>A MANE Select | NP_001094385.1:p.Thr72Asn |