Linked Data
ClinVar Variation Id:
515376
dbSNP Id:
rs375747367
ExAC:
16:70288653 G / A
gnomAD v2:
16-70288653-G-A
gnomAD v3:
16-70254750-G-A
gnomAD v4:
16-70254750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70254750G>A , CM000678.2:g.70254750G>A | GRCh38 |
| NC_000016.9:g.70288653G>A , CM000678.1:g.70288653G>A | GRCh37 |
| NC_000016.8:g.68846154G>A | NCBI36 |
| NG_023191.1:g.39760C>T , LRG_359:g.39760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2287-16C>T MANE Select | ENSP00000261772.8:n.2287-16C>T | |
| ENST00000565361.3:c.2287-16C>T | ENSP00000455360.3:n.2287-16C>T | |
| ENST00000569825.2:n.384C>T | ||
| ENST00000674512.1:c.2266-16C>T | ENSP00000501613.1:n.2266-16C>T | |
| ENST00000674652.1:c.*2076-16C>T | ENSP00000502620.1:n.*2076-16C>T | |
| ENST00000674691.1:c.2287-16C>T | ENSP00000502247.1:n.2287-16C>T | |
| ENST00000674768.1:c.*542-16C>T | ENSP00000501679.1:n.*542-16C>T | |
| ENST00000674811.1:c.*480-16C>T | ENSP00000502055.1:n.*480-16C>T | |
| ENST00000674848.1:n.2336-16C>T | ||
| ENST00000674962.1:n.4641-16C>T | ||
| ENST00000674963.1:c.2287-16C>T | ENSP00000501924.1:n.2287-16C>T | |
| ENST00000675035.1:c.2267-16C>T | ENSP00000502712.1:n.2267-16C>T | |
| ENST00000675045.1:c.2314-16C>T | ENSP00000502014.1:n.2314-16C>T | |
| ENST00000675120.1:c.*597-16C>T | ENSP00000502823.1:n.*597-16C>T | |
| ENST00000675133.1:c.2260-16C>T | ENSP00000502230.1:n.2260-16C>T | |
| ENST00000675270.1:n.2422-16C>T | ||
| ENST00000675297.1:c.*639-16C>T | ENSP00000502753.1:n.*639-16C>T | |
| ENST00000675371.1:c.2102-16C>T | ENSP00000502645.1:n.2102-16C>T | |
| ENST00000675403.1:n.3207-16C>T | ||
| ENST00000675569.1:c.*1521-16C>T | ENSP00000502534.1:n.*1521-16C>T | |
| ENST00000675588.1:n.436C>T | ||
| ENST00000675643.1:c.2287-16C>T | ENSP00000502797.1:n.2287-16C>T | |
| ENST00000675691.1:c.2158-16C>T | ENSP00000502196.1:n.2158-16C>T | |
| ENST00000675751.1:c.*1314-16C>T | ENSP00000502277.1:n.*1314-16C>T | |
| ENST00000675853.1:c.2287-16C>T | ENSP00000502367.1:n.2287-16C>T | |
| ENST00000675917.1:n.2584-16C>T | ||
| ENST00000675953.1:c.2203-16C>T | ENSP00000502321.1:n.2203-16C>T | |
| ENST00000675986.1:n.2445-16C>T | ||
| ENST00000676004.1:c.*2286-16C>T | ENSP00000502765.1:n.*2286-16C>T | |
| ENST00000676040.1:c.*1521-16C>T | ENSP00000502108.1:n.*1521-16C>T | |
| ENST00000676065.1:n.604-16C>T | ||
| ENST00000676168.1:c.2102-16C>T | ENSP00000502479.1:n.2102-16C>T | |
| ENST00000676209.1:c.*639-16C>T | ENSP00000502052.1:n.*639-16C>T | |
| ENST00000676211.1:c.*1314-16C>T | ENSP00000502726.1:n.*1314-16C>T | |
| ENST00000676212.1:c.2295-16C>T | ENSP00000501853.1:n.2295-16C>T | |
| ENST00000676247.1:c.*639-16C>T | ENSP00000502699.1:n.*639-16C>T | |
| ENST00000261772.12:c.2287-16C>T | ENSP00000261772.7:n.2287-16C>T | |
| ENST00000565361.2:c.632-16C>T | ||
| ENST00000569825.1:n.293-16C>T | ||
| NM_001605.2:c.2287-16C>T , LRG_359t1:c.2287-16C>T | NP_001596.2:n.2287-16C>T | |
| XR_933220.1:n.2253-16C>T | ||
| XR_933220.3:n.2212-16C>T | ||
| NM_001605.3:c.2287-16C>T MANE Select | NP_001596.2:n.2287-16C>T |