Linked Data
ClinVar Variation Id:
320324
dbSNP Id:
rs746822330
ExAC:
16:70286799 T / C
gnomAD v2:
16-70286799-T-C
gnomAD v3:
16-70252896-T-C
gnomAD v4:
16-70252896-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70252896T>C , CM000678.2:g.70252896T>C | GRCh38 |
| NC_000016.9:g.70286799T>C , CM000678.1:g.70286799T>C | GRCh37 |
| NC_000016.8:g.68844300T>C | NCBI36 |
| NG_023191.1:g.41614A>G , LRG_359:g.41614A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2732A>G MANE Select | ENSP00000261772.8:p.Asn911Ser | |
| ENST00000565361.3:c.2825A>G | ENSP00000455360.3:p.Asn942Ser | |
| ENST00000569825.2:n.1177A>G | ||
| ENST00000674512.1:c.2711A>G | ENSP00000501613.1:p.Asn904Ser | |
| ENST00000674652.1:c.*2521A>G | ENSP00000502620.1:n.*2521A>G | |
| ENST00000674691.1:c.2732A>G | ENSP00000502247.1:p.Asn911Ser | |
| ENST00000674768.1:c.*1319A>G | ENSP00000501679.1:n.*1319A>G | |
| ENST00000674811.1:c.*925A>G | ENSP00000502055.1:n.*925A>G | |
| ENST00000674848.1:n.3113A>G | ||
| ENST00000674962.1:n.5418A>G | ||
| ENST00000674963.1:c.2732A>G | ENSP00000501924.1:p.Asn911Ser | |
| ENST00000675035.1:c.*342A>G | ENSP00000502712.1:n.*342A>G | |
| ENST00000675045.1:c.2759A>G | ENSP00000502014.1:p.Asn920Ser | |
| ENST00000675120.1:c.*1042A>G | ENSP00000502823.1:n.*1042A>G | |
| ENST00000675133.1:c.2705A>G | ENSP00000502230.1:p.Asn902Ser | |
| ENST00000675270.1:n.2867A>G | ||
| ENST00000675297.1:c.*1998A>G | ENSP00000502753.1:n.*1998A>G | |
| ENST00000675371.1:c.*674A>G | ENSP00000502645.1:n.*674A>G | |
| ENST00000675403.1:n.3652A>G | ||
| ENST00000675569.1:c.*1966A>G | ENSP00000502534.1:n.*1966A>G | |
| ENST00000675588.1:n.1479A>G | ||
| ENST00000675643.1:c.2732A>G | ENSP00000502797.1:p.Asn911Ser | |
| ENST00000675691.1:c.2603A>G | ENSP00000502196.1:p.Asn868Ser | |
| ENST00000675751.1:c.*2091A>G | ENSP00000502277.1:n.*2091A>G | |
| ENST00000675853.1:c.2780A>G | ENSP00000502367.1:p.Asn927Ser | |
| ENST00000675917.1:n.3029A>G | ||
| ENST00000675953.1:c.2648A>G | ENSP00000502321.1:p.Asn883Ser | |
| ENST00000675986.1:n.3222A>G | ||
| ENST00000676004.1:c.*2731A>G | ENSP00000502765.1:n.*2731A>G | |
| ENST00000676040.1:c.*1966A>G | ENSP00000502108.1:n.*1966A>G | |
| ENST00000676168.1:c.*342A>G | ENSP00000502479.1:n.*342A>G | |
| ENST00000676209.1:c.*1084A>G | ENSP00000502052.1:n.*1084A>G | |
| ENST00000676211.1:c.*1759A>G | ENSP00000502726.1:n.*1759A>G | |
| ENST00000676212.1:c.*421A>G | ENSP00000501853.1:n.*421A>G | |
| ENST00000676247.1:c.*1416A>G | ENSP00000502699.1:n.*1416A>G | |
| ENST00000261772.12:c.2732A>G | ENSP00000261772.7:p.Asn911Ser | |
| NM_001605.2:c.2732A>G , LRG_359t1:c.2732A>G | NP_001596.2:p.Asn911Ser | |
| XR_933220.1:n.2698A>G | ||
| XR_933220.3:n.2657A>G | ||
| NM_001605.3:c.2732A>G MANE Select | NP_001596.2:p.Asn911Ser |