Linked Data
ClinVar Variation Id:
386600
dbSNP Id:
rs199521984
ExAC:
16:70287713 A / G
gnomAD v2:
16-70287713-A-G
gnomAD v3:
16-70253810-A-G
gnomAD v4:
16-70253810-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70253810A>G , CM000678.2:g.70253810A>G | GRCh38 |
| NC_000016.9:g.70287713A>G , CM000678.1:g.70287713A>G | GRCh37 |
| NC_000016.8:g.68845214A>G | NCBI36 |
| NG_023191.1:g.40700T>C , LRG_359:g.40700T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2521-10T>C MANE Select | ENSP00000261772.8:n.2521-10T>C | |
| ENST00000565361.3:c.2614-10T>C | ENSP00000455360.3:n.2614-10T>C | |
| ENST00000569825.2:n.634-10T>C | ||
| ENST00000674512.1:c.2500-10T>C | ENSP00000501613.1:n.2500-10T>C | |
| ENST00000674652.1:c.*2310-10T>C | ENSP00000502620.1:n.*2310-10T>C | |
| ENST00000674691.1:c.2521-10T>C | ENSP00000502247.1:n.2521-10T>C | |
| ENST00000674768.1:c.*776-10T>C | ENSP00000501679.1:n.*776-10T>C | |
| ENST00000674811.1:c.*714-10T>C | ENSP00000502055.1:n.*714-10T>C | |
| ENST00000674848.1:n.2570-10T>C | ||
| ENST00000674962.1:n.4875-10T>C | ||
| ENST00000674963.1:c.2521-10T>C | ENSP00000501924.1:n.2521-10T>C | |
| ENST00000675035.1:c.*131-10T>C | ENSP00000502712.1:n.*131-10T>C | |
| ENST00000675045.1:c.2548-10T>C | ENSP00000502014.1:n.2548-10T>C | |
| ENST00000675120.1:c.*831-10T>C | ENSP00000502823.1:n.*831-10T>C | |
| ENST00000675133.1:c.2494-10T>C | ENSP00000502230.1:n.2494-10T>C | |
| ENST00000675270.1:n.2656-10T>C | ||
| ENST00000675297.1:c.*1455-10T>C | ENSP00000502753.1:n.*1455-10T>C | |
| ENST00000675371.1:c.*131-10T>C | ENSP00000502645.1:n.*131-10T>C | |
| ENST00000675403.1:n.3441-10T>C | ||
| ENST00000675569.1:c.*1755-10T>C | ENSP00000502534.1:n.*1755-10T>C | |
| ENST00000675588.1:n.1268-10T>C | ||
| ENST00000675643.1:c.2521-10T>C | ENSP00000502797.1:n.2521-10T>C | |
| ENST00000675691.1:c.2392-10T>C | ENSP00000502196.1:n.2392-10T>C | |
| ENST00000675751.1:c.*1548-10T>C | ENSP00000502277.1:n.*1548-10T>C | |
| ENST00000675853.1:c.2521-10T>C | ENSP00000502367.1:n.2521-10T>C | |
| ENST00000675917.1:n.2818-10T>C | ||
| ENST00000675953.1:c.2437-10T>C | ENSP00000502321.1:n.2437-10T>C | |
| ENST00000675986.1:n.2679-10T>C | ||
| ENST00000676004.1:c.*2520-10T>C | ENSP00000502765.1:n.*2520-10T>C | |
| ENST00000676040.1:c.*1755-10T>C | ENSP00000502108.1:n.*1755-10T>C | |
| ENST00000676168.1:c.*131-10T>C | ENSP00000502479.1:n.*131-10T>C | |
| ENST00000676209.1:c.*873-10T>C | ENSP00000502052.1:n.*873-10T>C | |
| ENST00000676211.1:c.*1548-10T>C | ENSP00000502726.1:n.*1548-10T>C | |
| ENST00000676212.1:c.*210-10T>C | ENSP00000501853.1:n.*210-10T>C | |
| ENST00000676247.1:c.*873-10T>C | ENSP00000502699.1:n.*873-10T>C | |
| ENST00000261772.12:c.2521-10T>C | ENSP00000261772.7:n.2521-10T>C | |
| ENST00000569825.1:n.527-10T>C | ||
| NM_001605.2:c.2521-10T>C , LRG_359t1:c.2521-10T>C | NP_001596.2:n.2521-10T>C | |
| XR_933220.1:n.2487-10T>C | ||
| XR_933220.3:n.2446-10T>C | ||
| NM_001605.3:c.2521-10T>C MANE Select | NP_001596.2:n.2521-10T>C |