Linked Data
ClinVar Variation Id:
246063
dbSNP Id:
rs142850278
ExAC:
16:70289731 C / T
gnomAD v2:
16-70289731-C-T
gnomAD v3:
16-70255828-C-T
gnomAD v4:
16-70255828-C-T
COSMIC:
COSM972986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255828C>T , CM000678.2:g.70255828C>T | GRCh38 |
| NC_000016.9:g.70289731C>T , CM000678.1:g.70289731C>T | GRCh37 |
| NC_000016.8:g.68847232C>T | NCBI36 |
| NG_023191.1:g.38682G>A , LRG_359:g.38682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2186G>A MANE Select | ENSP00000261772.8:p.Arg729Gln | |
| ENST00000564359.6:n.2159G>A | ||
| ENST00000565361.3:c.2186G>A | ENSP00000455360.3:p.Arg729Gln | |
| ENST00000674512.1:c.2165G>A | ENSP00000501613.1:p.Arg722Gln | |
| ENST00000674652.1:c.*1975G>A | ENSP00000502620.1:n.*1975G>A | |
| ENST00000674691.1:c.2186G>A | ENSP00000502247.1:p.Arg729Gln | |
| ENST00000674768.1:c.*441G>A | ENSP00000501679.1:n.*441G>A | |
| ENST00000674811.1:c.*379G>A | ENSP00000502055.1:n.*379G>A | |
| ENST00000674848.1:n.2235G>A | ||
| ENST00000674962.1:n.4540G>A | ||
| ENST00000674963.1:c.2186G>A | ENSP00000501924.1:p.Arg729Gln | |
| ENST00000675035.1:c.2166G>A | ENSP00000502712.1:p.Ala722= | |
| ENST00000675045.1:c.2213G>A | ENSP00000502014.1:p.Arg738Gln | |
| ENST00000675120.1:c.*496G>A | ENSP00000502823.1:n.*496G>A | |
| ENST00000675133.1:c.2159G>A | ENSP00000502230.1:p.Arg720Gln | |
| ENST00000675270.1:n.2321G>A | ||
| ENST00000675297.1:c.*538G>A | ENSP00000502753.1:n.*538G>A | |
| ENST00000675371.1:c.2001G>A | ENSP00000502645.1:p.Ala667= | |
| ENST00000675403.1:n.3106G>A | ||
| ENST00000675569.1:c.*1420G>A | ENSP00000502534.1:n.*1420G>A | |
| ENST00000675643.1:c.2186G>A | ENSP00000502797.1:p.Arg729Gln | |
| ENST00000675691.1:c.2057G>A | ENSP00000502196.1:p.Arg686Gln | |
| ENST00000675751.1:c.*1213G>A | ENSP00000502277.1:n.*1213G>A | |
| ENST00000675853.1:c.2186G>A | ENSP00000502367.1:p.Arg729Gln | |
| ENST00000675917.1:n.2483G>A | ||
| ENST00000675953.1:c.2102G>A | ENSP00000502321.1:p.Arg701Gln | |
| ENST00000675986.1:n.2344G>A | ||
| ENST00000676004.1:c.*2185G>A | ENSP00000502765.1:n.*2185G>A | |
| ENST00000676040.1:c.*1420G>A | ENSP00000502108.1:n.*1420G>A | |
| ENST00000676065.1:n.503G>A | ||
| ENST00000676168.1:c.2001G>A | ENSP00000502479.1:p.Ala667= | |
| ENST00000676209.1:c.*538G>A | ENSP00000502052.1:n.*538G>A | |
| ENST00000676211.1:c.*1213G>A | ENSP00000502726.1:n.*1213G>A | |
| ENST00000676212.1:c.2186G>A | ENSP00000501853.1:p.Arg729Gln | |
| ENST00000676247.1:c.*538G>A | ENSP00000502699.1:n.*538G>A | |
| ENST00000261772.12:c.2186G>A | ENSP00000261772.7:p.Arg729Gln | |
| ENST00000564359.5:n.497G>A | ||
| ENST00000565361.2:c.531G>A | ||
| ENST00000569825.1:n.192G>A | ||
| NM_001605.2:c.2186G>A , LRG_359t1:c.2186G>A | NP_001596.2:p.Arg729Gln | |
| XR_933220.1:n.2152G>A | ||
| XR_933220.3:n.2111G>A | ||
| NM_001605.3:c.2186G>A MANE Select | NP_001596.2:p.Arg729Gln |