Linked Data
ClinVar Variation Id:
134152
dbSNP Id:
rs572439259
ExAC:
16:14029204 C / T
gnomAD v2:
16-14029204-C-T
gnomAD v3:
16-13935347-C-T
gnomAD v4:
16-13935347-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13935347C>T , CM000678.2:g.13935347C>T | GRCh38 |
| NC_000016.9:g.14029204C>T , CM000678.1:g.14029204C>T | GRCh37 |
| NC_000016.8:g.13936705C>T | NCBI36 |
| NG_011442.1:g.20191C>T , LRG_463:g.20191C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682568.1:n.1493C>T | ||
| ENST00000682617.1:c.1553C>T | ENSP00000507912.1:p.Pro518Leu | |
| ENST00000682826.1:c.*729C>T | ENSP00000507274.1:n.*729C>T | |
| ENST00000682909.1:n.3455C>T | ||
| ENST00000683277.1:n.3060C>T | ||
| ENST00000683407.1:n.1423C>T | ||
| ENST00000683962.1:c.*1109C>T | ENSP00000506854.1:n.*1109C>T | |
| ENST00000311895.8:c.1415C>T MANE Select | ENSP00000310520.7:p.Pro472Leu | |
| ENST00000311895.7:c.1415C>T | ENSP00000310520.7:p.Pro472Leu | |
| ENST00000389138.7:n.692C>T | ||
| ENST00000573018.1:n.483C>T | ||
| NM_005236.2:c.1415C>T , LRG_463t1:c.1415C>T | NP_005227.1:p.Pro472Leu | |
| XM_011522424.1:c.1553C>T | XP_011520726.1:p.Pro518Leu | |
| XM_011522425.1:c.872C>T | XP_011520727.1:p.Pro291Leu | |
| XM_011522426.1:c.626C>T | XP_011520728.1:p.Pro209Leu | |
| XM_011522427.1:c.65C>T | XP_011520729.1:p.Pro22Leu | |
| XR_932805.1:n.1574C>T | ||
| XM_011522424.3:c.1553C>T | XP_011520726.1:p.Pro518Leu | |
| XM_017023043.2:c.626C>T | XP_016878532.1:p.Pro209Leu | |
| NM_005236.3:c.1415C>T MANE Select | NP_005227.1:p.Pro472Leu |