Linked Data
ClinVar Variation Id:
320321
ClinVar RCV Id:
RCV000357566
dbSNP Id:
rs150625194
gnomAD v2:
16-70286411-G-A
gnomAD v3:
16-70252508-G-A
gnomAD v4:
16-70252508-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70252508G>A , CM000678.2:g.70252508G>A | GRCh38 |
| NC_000016.9:g.70286411G>A , CM000678.1:g.70286411G>A | GRCh37 |
| NC_000016.8:g.68843912G>A | NCBI36 |
| NG_023191.1:g.42002C>T , LRG_359:g.42002C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261772.13:c.*213C>T MANE Select | ENSP00000261772.8:n.*213C>T | |
| ENST00000565361.3:c.*213C>T | ENSP00000455360.3:n.*213C>T | |
| ENST00000569825.2:n.1565C>T | ||
| ENST00000674512.1:c.*213C>T | ENSP00000501613.1:n.*213C>T | |
| ENST00000674652.1:c.*2909C>T | ENSP00000502620.1:n.*2909C>T | |
| ENST00000674691.1:c.*213C>T | ENSP00000502247.1:n.*213C>T | |
| ENST00000674768.1:c.*1707C>T | ENSP00000501679.1:n.*1707C>T | |
| ENST00000674811.1:c.*1313C>T | ENSP00000502055.1:n.*1313C>T | |
| ENST00000674848.1:n.3501C>T | ||
| ENST00000674962.1:n.5806C>T | ||
| ENST00000674963.1:c.*213C>T | ENSP00000501924.1:n.*213C>T | |
| ENST00000675035.1:c.*730C>T | ENSP00000502712.1:n.*730C>T | |
| ENST00000675045.1:c.*213C>T | ENSP00000502014.1:n.*213C>T | |
| ENST00000675120.1:c.*1430C>T | ENSP00000502823.1:n.*1430C>T | |
| ENST00000675133.1:c.*213C>T | ENSP00000502230.1:n.*213C>T | |
| ENST00000675270.1:n.3255C>T | ||
| ENST00000675297.1:c.*2386C>T | ENSP00000502753.1:n.*2386C>T | |
| ENST00000675371.1:c.*1062C>T | ENSP00000502645.1:n.*1062C>T | |
| ENST00000675403.1:n.4040C>T | ||
| ENST00000675569.1:c.*2354C>T | ENSP00000502534.1:n.*2354C>T | |
| ENST00000675588.1:n.1867C>T | ||
| ENST00000675643.1:c.*213C>T | ENSP00000502797.1:n.*213C>T | |
| ENST00000675691.1:c.*213C>T | ENSP00000502196.1:n.*213C>T | |
| ENST00000675751.1:c.*2479C>T | ENSP00000502277.1:n.*2479C>T | |
| ENST00000675853.1:c.*213C>T | ENSP00000502367.1:n.*213C>T | |
| ENST00000675917.1:n.3417C>T | ||
| ENST00000675953.1:c.*213C>T | ENSP00000502321.1:n.*213C>T | |
| ENST00000675986.1:n.3610C>T | ||
| ENST00000676004.1:c.*3119C>T | ENSP00000502765.1:n.*3119C>T | |
| ENST00000676040.1:c.*2354C>T | ENSP00000502108.1:n.*2354C>T | |
| ENST00000676168.1:c.*730C>T | ENSP00000502479.1:n.*730C>T | |
| ENST00000676209.1:c.*1472C>T | ENSP00000502052.1:n.*1472C>T | |
| ENST00000676211.1:c.*2147C>T | ENSP00000502726.1:n.*2147C>T | |
| ENST00000676212.1:c.*809C>T | ENSP00000501853.1:n.*809C>T | |
| ENST00000676247.1:c.*1804C>T | ENSP00000502699.1:n.*1804C>T | |
| ENST00000261772.12:c.*213C>T | ENSP00000261772.7:n.*213C>T | |
| NM_001605.2:c.*213C>T , LRG_359t1:c.*213C>T | NP_001596.2:n.*213C>T | |
| XR_933220.1:n.3086C>T | ||
| XR_933220.3:n.3045C>T | ||
| NM_001605.3:c.*213C>T MANE Select | NP_001596.2:n.*213C>T |