Linked Data
ClinVar Variation Id:
383479
dbSNP Id:
rs1057521642
gnomAD v3:
16-70259130-G-A
gnomAD v4:
16-70259130-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70259130G>A , CM000678.2:g.70259130G>A | GRCh38 |
| NC_000016.9:g.70293033G>A , CM000678.1:g.70293033G>A | GRCh37 |
| NC_000016.8:g.68850534G>A | NCBI36 |
| NG_023191.1:g.35380C>T , LRG_359:g.35380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.1842C>T MANE Select | ENSP00000261772.8:p.Ala614= | |
| ENST00000564359.6:n.2000C>T | ||
| ENST00000565361.3:c.1842C>T | ENSP00000455360.3:p.Ala614= | |
| ENST00000674512.1:c.1821C>T | ENSP00000501613.1:p.Ala607= | |
| ENST00000674652.1:c.*869C>T | ENSP00000502620.1:n.*869C>T | |
| ENST00000674691.1:c.1842C>T | ENSP00000502247.1:p.Ala614= | |
| ENST00000674768.1:c.*97C>T | ENSP00000501679.1:n.*97C>T | |
| ENST00000674811.1:c.*35C>T | ENSP00000502055.1:n.*35C>T | |
| ENST00000674848.1:n.1891C>T | ||
| ENST00000674962.1:n.2000C>T | ||
| ENST00000674963.1:c.1842C>T | ENSP00000501924.1:p.Ala614= | |
| ENST00000675035.1:c.1842C>T | ENSP00000502712.1:p.Ala614= | |
| ENST00000675045.1:c.1842C>T | ENSP00000502014.1:p.Ala614= | |
| ENST00000675120.1:c.*152C>T | ENSP00000502823.1:n.*152C>T | |
| ENST00000675133.1:c.1815C>T | ENSP00000502230.1:p.Ala605= | |
| ENST00000675270.1:n.1977C>T | ||
| ENST00000675297.1:c.*194C>T | ENSP00000502753.1:n.*194C>T | |
| ENST00000675371.1:c.1842C>T | ENSP00000502645.1:p.Ala614= | |
| ENST00000675403.1:n.2000C>T | ||
| ENST00000675569.1:c.*1076C>T | ENSP00000502534.1:n.*1076C>T | |
| ENST00000675643.1:c.1842C>T | ENSP00000502797.1:p.Ala614= | |
| ENST00000675691.1:c.1713C>T | ENSP00000502196.1:p.Ala571= | |
| ENST00000675751.1:c.*869C>T | ENSP00000502277.1:n.*869C>T | |
| ENST00000675853.1:c.1842C>T | ENSP00000502367.1:p.Ala614= | |
| ENST00000675917.1:n.2139C>T | ||
| ENST00000675953.1:c.1758C>T | ENSP00000502321.1:p.Ala586= | |
| ENST00000675986.1:n.2000C>T | ||
| ENST00000676004.1:c.*1841C>T | ENSP00000502765.1:n.*1841C>T | |
| ENST00000676040.1:c.*1076C>T | ENSP00000502108.1:n.*1076C>T | |
| ENST00000676168.1:c.1842C>T | ENSP00000502479.1:p.Ala614= | |
| ENST00000676209.1:c.*194C>T | ENSP00000502052.1:n.*194C>T | |
| ENST00000676211.1:c.*869C>T | ENSP00000502726.1:n.*869C>T | |
| ENST00000676212.1:c.1842C>T | ENSP00000501853.1:p.Ala614= | |
| ENST00000676247.1:c.*194C>T | ENSP00000502699.1:n.*194C>T | |
| ENST00000261772.12:c.1842C>T | ENSP00000261772.7:p.Ala614= | |
| ENST00000564359.5:n.338C>T | ||
| ENST00000565361.2:c.187C>T | ||
| ENST00000567490.1:n.427C>T | ||
| ENST00000569790.2:n.434C>T | ||
| NM_001605.2:c.1842C>T , LRG_359t1:c.1842C>T | NP_001596.2:p.Ala614= | |
| XR_933220.1:n.1993C>T | ||
| XR_933220.3:n.1952C>T | ||
| NM_001605.3:c.1842C>T MANE Select | NP_001596.2:p.Ala614= |