Linked Data
ClinVar Variation Id:
507511
dbSNP Id:
rs1555539335
gnomAD v3:
16-70253805-A-C
gnomAD v4:
16-70253805-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70253805A>C , CM000678.2:g.70253805A>C | GRCh38 |
| NC_000016.9:g.70287708A>C , CM000678.1:g.70287708A>C | GRCh37 |
| NC_000016.8:g.68845209A>C | NCBI36 |
| NG_023191.1:g.40705T>G , LRG_359:g.40705T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2521-5T>G MANE Select | ENSP00000261772.8:n.2521-5T>G | |
| ENST00000565361.3:c.2614-5T>G | ENSP00000455360.3:n.2614-5T>G | |
| ENST00000569825.2:n.634-5T>G | ||
| ENST00000674512.1:c.2500-5T>G | ENSP00000501613.1:n.2500-5T>G | |
| ENST00000674652.1:c.*2310-5T>G | ENSP00000502620.1:n.*2310-5T>G | |
| ENST00000674691.1:c.2521-5T>G | ENSP00000502247.1:n.2521-5T>G | |
| ENST00000674768.1:c.*776-5T>G | ENSP00000501679.1:n.*776-5T>G | |
| ENST00000674811.1:c.*714-5T>G | ENSP00000502055.1:n.*714-5T>G | |
| ENST00000674848.1:n.2570-5T>G | ||
| ENST00000674962.1:n.4875-5T>G | ||
| ENST00000674963.1:c.2521-5T>G | ENSP00000501924.1:n.2521-5T>G | |
| ENST00000675035.1:c.*131-5T>G | ENSP00000502712.1:n.*131-5T>G | |
| ENST00000675045.1:c.2548-5T>G | ENSP00000502014.1:n.2548-5T>G | |
| ENST00000675120.1:c.*831-5T>G | ENSP00000502823.1:n.*831-5T>G | |
| ENST00000675133.1:c.2494-5T>G | ENSP00000502230.1:n.2494-5T>G | |
| ENST00000675270.1:n.2656-5T>G | ||
| ENST00000675297.1:c.*1455-5T>G | ENSP00000502753.1:n.*1455-5T>G | |
| ENST00000675371.1:c.*131-5T>G | ENSP00000502645.1:n.*131-5T>G | |
| ENST00000675403.1:n.3441-5T>G | ||
| ENST00000675569.1:c.*1755-5T>G | ENSP00000502534.1:n.*1755-5T>G | |
| ENST00000675588.1:n.1268-5T>G | ||
| ENST00000675643.1:c.2521-5T>G | ENSP00000502797.1:n.2521-5T>G | |
| ENST00000675691.1:c.2392-5T>G | ENSP00000502196.1:n.2392-5T>G | |
| ENST00000675751.1:c.*1548-5T>G | ENSP00000502277.1:n.*1548-5T>G | |
| ENST00000675853.1:c.2521-5T>G | ENSP00000502367.1:n.2521-5T>G | |
| ENST00000675917.1:n.2818-5T>G | ||
| ENST00000675953.1:c.2437-5T>G | ENSP00000502321.1:n.2437-5T>G | |
| ENST00000675986.1:n.2679-5T>G | ||
| ENST00000676004.1:c.*2520-5T>G | ENSP00000502765.1:n.*2520-5T>G | |
| ENST00000676040.1:c.*1755-5T>G | ENSP00000502108.1:n.*1755-5T>G | |
| ENST00000676168.1:c.*131-5T>G | ENSP00000502479.1:n.*131-5T>G | |
| ENST00000676209.1:c.*873-5T>G | ENSP00000502052.1:n.*873-5T>G | |
| ENST00000676211.1:c.*1548-5T>G | ENSP00000502726.1:n.*1548-5T>G | |
| ENST00000676212.1:c.*210-5T>G | ENSP00000501853.1:n.*210-5T>G | |
| ENST00000676247.1:c.*873-5T>G | ENSP00000502699.1:n.*873-5T>G | |
| ENST00000261772.12:c.2521-5T>G | ENSP00000261772.7:n.2521-5T>G | |
| ENST00000569825.1:n.527-5T>G | ||
| NM_001605.2:c.2521-5T>G , LRG_359t1:c.2521-5T>G | NP_001596.2:n.2521-5T>G | |
| XR_933220.1:n.2487-5T>G | ||
| XR_933220.3:n.2446-5T>G | ||
| NM_001605.3:c.2521-5T>G MANE Select | NP_001596.2:n.2521-5T>G |