Linked Data
ClinVar Variation Id:
320322
ClinVar RCV Id:
RCV000392008
dbSNP Id:
rs554221793
gnomAD v2:
16-70286455-G-C
gnomAD v3:
16-70252552-G-C
gnomAD v4:
16-70252552-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70252552G>C , CM000678.2:g.70252552G>C | GRCh38 |
| NC_000016.9:g.70286455G>C , CM000678.1:g.70286455G>C | GRCh37 |
| NC_000016.8:g.68843956G>C | NCBI36 |
| NG_023191.1:g.41958C>G , LRG_359:g.41958C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.*169C>G MANE Select | ENSP00000261772.8:n.*169C>G | |
| ENST00000565361.3:c.*169C>G | ENSP00000455360.3:n.*169C>G | |
| ENST00000569825.2:n.1521C>G | ||
| ENST00000674512.1:c.*169C>G | ENSP00000501613.1:n.*169C>G | |
| ENST00000674652.1:c.*2865C>G | ENSP00000502620.1:n.*2865C>G | |
| ENST00000674691.1:c.*169C>G | ENSP00000502247.1:n.*169C>G | |
| ENST00000674768.1:c.*1663C>G | ENSP00000501679.1:n.*1663C>G | |
| ENST00000674811.1:c.*1269C>G | ENSP00000502055.1:n.*1269C>G | |
| ENST00000674848.1:n.3457C>G | ||
| ENST00000674962.1:n.5762C>G | ||
| ENST00000674963.1:c.*169C>G | ENSP00000501924.1:n.*169C>G | |
| ENST00000675035.1:c.*686C>G | ENSP00000502712.1:n.*686C>G | |
| ENST00000675045.1:c.*169C>G | ENSP00000502014.1:n.*169C>G | |
| ENST00000675120.1:c.*1386C>G | ENSP00000502823.1:n.*1386C>G | |
| ENST00000675133.1:c.*169C>G | ENSP00000502230.1:n.*169C>G | |
| ENST00000675270.1:n.3211C>G | ||
| ENST00000675297.1:c.*2342C>G | ENSP00000502753.1:n.*2342C>G | |
| ENST00000675371.1:c.*1018C>G | ENSP00000502645.1:n.*1018C>G | |
| ENST00000675403.1:n.3996C>G | ||
| ENST00000675569.1:c.*2310C>G | ENSP00000502534.1:n.*2310C>G | |
| ENST00000675588.1:n.1823C>G | ||
| ENST00000675643.1:c.*169C>G | ENSP00000502797.1:n.*169C>G | |
| ENST00000675691.1:c.*169C>G | ENSP00000502196.1:n.*169C>G | |
| ENST00000675751.1:c.*2435C>G | ENSP00000502277.1:n.*2435C>G | |
| ENST00000675853.1:c.*169C>G | ENSP00000502367.1:n.*169C>G | |
| ENST00000675917.1:n.3373C>G | ||
| ENST00000675953.1:c.*169C>G | ENSP00000502321.1:n.*169C>G | |
| ENST00000675986.1:n.3566C>G | ||
| ENST00000676004.1:c.*3075C>G | ENSP00000502765.1:n.*3075C>G | |
| ENST00000676040.1:c.*2310C>G | ENSP00000502108.1:n.*2310C>G | |
| ENST00000676168.1:c.*686C>G | ENSP00000502479.1:n.*686C>G | |
| ENST00000676209.1:c.*1428C>G | ENSP00000502052.1:n.*1428C>G | |
| ENST00000676211.1:c.*2103C>G | ENSP00000502726.1:n.*2103C>G | |
| ENST00000676212.1:c.*765C>G | ENSP00000501853.1:n.*765C>G | |
| ENST00000676247.1:c.*1760C>G | ENSP00000502699.1:n.*1760C>G | |
| ENST00000261772.12:c.*169C>G | ENSP00000261772.7:n.*169C>G | |
| NM_001605.2:c.*169C>G , LRG_359t1:c.*169C>G | NP_001596.2:n.*169C>G | |
| XR_933220.1:n.3042C>G | ||
| XR_933220.3:n.3001C>G | ||
| NM_001605.3:c.*169C>G MANE Select | NP_001596.2:n.*169C>G |