Linked Data
ClinVar Variation Id:
543185
ClinVar RCV Id:
RCV000653864
dbSNP Id:
rs761043713
ExAC:
16:70292030 G / A
gnomAD v2:
16-70292030-G-A
gnomAD v3:
16-70258127-G-A
gnomAD v4:
16-70258127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70258127G>A , CM000678.2:g.70258127G>A | GRCh38 |
| NC_000016.9:g.70292030G>A , CM000678.1:g.70292030G>A | GRCh37 |
| NC_000016.8:g.68849531G>A | NCBI36 |
| NG_023191.1:g.36383C>T , LRG_359:g.36383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2083C>T MANE Select | ENSP00000261772.8:p.Arg695Ter | |
| ENST00000564359.6:n.2150+853C>T | ||
| ENST00000565361.3:c.2083C>T | ENSP00000455360.3:p.Arg695Ter | |
| ENST00000674512.1:c.2062C>T | ENSP00000501613.1:p.Arg688Ter | |
| ENST00000674652.1:c.*1872C>T | ENSP00000502620.1:n.*1872C>T | |
| ENST00000674691.1:c.2083C>T | ENSP00000502247.1:p.Arg695Ter | |
| ENST00000674768.1:c.*338C>T | ENSP00000501679.1:n.*338C>T | |
| ENST00000674811.1:c.*276C>T | ENSP00000502055.1:n.*276C>T | |
| ENST00000674848.1:n.2132C>T | ||
| ENST00000674962.1:n.2241C>T | ||
| ENST00000674963.1:c.2083C>T | ENSP00000501924.1:p.Arg695Ter | |
| ENST00000675035.1:c.2083C>T | ENSP00000502712.1:p.Arg695Ter | |
| ENST00000675045.1:c.2110C>T | ENSP00000502014.1:p.Arg704Ter | |
| ENST00000675120.1:c.*393C>T | ENSP00000502823.1:n.*393C>T | |
| ENST00000675133.1:c.2056C>T | ENSP00000502230.1:p.Arg686Ter | |
| ENST00000675270.1:n.2218C>T | ||
| ENST00000675297.1:c.*435C>T | ENSP00000502753.1:n.*435C>T | |
| ENST00000675371.1:c.1992+853C>T | ENSP00000502645.1:n.1992+853C>T | |
| ENST00000675403.1:n.3003C>T | ||
| ENST00000675569.1:c.*1317C>T | ENSP00000502534.1:n.*1317C>T | |
| ENST00000675643.1:c.2083C>T | ENSP00000502797.1:p.Arg695Ter | |
| ENST00000675691.1:c.1954C>T | ENSP00000502196.1:p.Arg652Ter | |
| ENST00000675751.1:c.*1110C>T | ENSP00000502277.1:n.*1110C>T | |
| ENST00000675853.1:c.2083C>T | ENSP00000502367.1:p.Arg695Ter | |
| ENST00000675917.1:n.2380C>T | ||
| ENST00000675953.1:c.1999C>T | ENSP00000502321.1:p.Arg667Ter | |
| ENST00000675986.1:n.2241C>T | ||
| ENST00000676004.1:c.*2082C>T | ENSP00000502765.1:n.*2082C>T | |
| ENST00000676040.1:c.*1317C>T | ENSP00000502108.1:n.*1317C>T | |
| ENST00000676168.1:c.1992+853C>T | ENSP00000502479.1:n.1992+853C>T | |
| ENST00000676209.1:c.*435C>T | ENSP00000502052.1:n.*435C>T | |
| ENST00000676211.1:c.*1110C>T | ENSP00000502726.1:n.*1110C>T | |
| ENST00000676212.1:c.2083C>T | ENSP00000501853.1:p.Arg695Ter | |
| ENST00000676247.1:c.*435C>T | ENSP00000502699.1:n.*435C>T | |
| ENST00000261772.12:c.2083C>T | ENSP00000261772.7:p.Arg695Ter | |
| ENST00000564359.5:n.488+853C>T | ||
| ENST00000565361.2:c.428C>T | ||
| ENST00000569825.1:n.89C>T | ||
| NM_001605.2:c.2083C>T , LRG_359t1:c.2083C>T | NP_001596.2:p.Arg695Ter | |
| XR_933220.1:n.2143+853C>T | ||
| XR_933220.3:n.2102+853C>T | ||
| NM_001605.3:c.2083C>T MANE Select | NP_001596.2:p.Arg695Ter |