Linked Data
ClinVar Variation Id:
246012
dbSNP Id:
rs368011194
ExAC:
16:70287672 C / T
gnomAD v2:
16-70287672-C-T
gnomAD v3:
16-70253769-C-T
gnomAD v4:
16-70253769-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70253769C>T , CM000678.2:g.70253769C>T | GRCh38 |
| NC_000016.9:g.70287672C>T , CM000678.1:g.70287672C>T | GRCh37 |
| NC_000016.8:g.68845173C>T | NCBI36 |
| NG_023191.1:g.40741G>A , LRG_359:g.40741G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2552G>A MANE Select | ENSP00000261772.8:p.Ser851Asn | |
| ENST00000565361.3:c.2645G>A | ENSP00000455360.3:p.Ser882Asn | |
| ENST00000569825.2:n.665G>A | ||
| ENST00000674512.1:c.2531G>A | ENSP00000501613.1:p.Ser844Asn | |
| ENST00000674652.1:c.*2341G>A | ENSP00000502620.1:n.*2341G>A | |
| ENST00000674691.1:c.2552G>A | ENSP00000502247.1:p.Ser851Asn | |
| ENST00000674768.1:c.*807G>A | ENSP00000501679.1:n.*807G>A | |
| ENST00000674811.1:c.*745G>A | ENSP00000502055.1:n.*745G>A | |
| ENST00000674848.1:n.2601G>A | ||
| ENST00000674962.1:n.4906G>A | ||
| ENST00000674963.1:c.2552G>A | ENSP00000501924.1:p.Ser851Asn | |
| ENST00000675035.1:c.*162G>A | ENSP00000502712.1:n.*162G>A | |
| ENST00000675045.1:c.2579G>A | ENSP00000502014.1:p.Ser860Asn | |
| ENST00000675120.1:c.*862G>A | ENSP00000502823.1:n.*862G>A | |
| ENST00000675133.1:c.2525G>A | ENSP00000502230.1:p.Ser842Asn | |
| ENST00000675270.1:n.2687G>A | ||
| ENST00000675297.1:c.*1486G>A | ENSP00000502753.1:n.*1486G>A | |
| ENST00000675371.1:c.*162G>A | ENSP00000502645.1:n.*162G>A | |
| ENST00000675403.1:n.3472G>A | ||
| ENST00000675569.1:c.*1786G>A | ENSP00000502534.1:n.*1786G>A | |
| ENST00000675588.1:n.1299G>A | ||
| ENST00000675643.1:c.2552G>A | ENSP00000502797.1:p.Ser851Asn | |
| ENST00000675691.1:c.2423G>A | ENSP00000502196.1:p.Ser808Asn | |
| ENST00000675751.1:c.*1579G>A | ENSP00000502277.1:n.*1579G>A | |
| ENST00000675853.1:c.2552G>A | ENSP00000502367.1:p.Ser851Asn | |
| ENST00000675917.1:n.2849G>A | ||
| ENST00000675953.1:c.2468G>A | ENSP00000502321.1:p.Ser823Asn | |
| ENST00000675986.1:n.2710G>A | ||
| ENST00000676004.1:c.*2551G>A | ENSP00000502765.1:n.*2551G>A | |
| ENST00000676040.1:c.*1786G>A | ENSP00000502108.1:n.*1786G>A | |
| ENST00000676168.1:c.*162G>A | ENSP00000502479.1:n.*162G>A | |
| ENST00000676209.1:c.*904G>A | ENSP00000502052.1:n.*904G>A | |
| ENST00000676211.1:c.*1579G>A | ENSP00000502726.1:n.*1579G>A | |
| ENST00000676212.1:c.*241G>A | ENSP00000501853.1:n.*241G>A | |
| ENST00000676247.1:c.*904G>A | ENSP00000502699.1:n.*904G>A | |
| ENST00000261772.12:c.2552G>A | ENSP00000261772.7:p.Ser851Asn | |
| ENST00000569825.1:n.558G>A | ||
| NM_001605.2:c.2552G>A , LRG_359t1:c.2552G>A | NP_001596.2:p.Ser851Asn | |
| XR_933220.1:n.2518G>A | ||
| XR_933220.3:n.2477G>A | ||
| NM_001605.3:c.2552G>A MANE Select | NP_001596.2:p.Ser851Asn |