Linked Data
ClinVar Variation Id:
246598
dbSNP Id:
rs369774476
ExAC:
16:70286793 C / T
gnomAD v2:
16-70286793-C-T
gnomAD v3:
16-70252890-C-T
gnomAD v4:
16-70252890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70252890C>T , CM000678.2:g.70252890C>T | GRCh38 |
| NC_000016.9:g.70286793C>T , CM000678.1:g.70286793C>T | GRCh37 |
| NC_000016.8:g.68844294C>T | NCBI36 |
| NG_023191.1:g.41620G>A , LRG_359:g.41620G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2738G>A MANE Select | ENSP00000261772.8:p.Gly913Asp | |
| ENST00000565361.3:c.2831G>A | ENSP00000455360.3:p.Gly944Asp | |
| ENST00000569825.2:n.1183G>A | ||
| ENST00000674512.1:c.2717G>A | ENSP00000501613.1:p.Gly906Asp | |
| ENST00000674652.1:c.*2527G>A | ENSP00000502620.1:n.*2527G>A | |
| ENST00000674691.1:c.2738G>A | ENSP00000502247.1:p.Gly913Asp | |
| ENST00000674768.1:c.*1325G>A | ENSP00000501679.1:n.*1325G>A | |
| ENST00000674811.1:c.*931G>A | ENSP00000502055.1:n.*931G>A | |
| ENST00000674848.1:n.3119G>A | ||
| ENST00000674962.1:n.5424G>A | ||
| ENST00000674963.1:c.2738G>A | ENSP00000501924.1:p.Gly913Asp | |
| ENST00000675035.1:c.*348G>A | ENSP00000502712.1:n.*348G>A | |
| ENST00000675045.1:c.2765G>A | ENSP00000502014.1:p.Gly922Asp | |
| ENST00000675120.1:c.*1048G>A | ENSP00000502823.1:n.*1048G>A | |
| ENST00000675133.1:c.2711G>A | ENSP00000502230.1:p.Gly904Asp | |
| ENST00000675270.1:n.2873G>A | ||
| ENST00000675297.1:c.*2004G>A | ENSP00000502753.1:n.*2004G>A | |
| ENST00000675371.1:c.*680G>A | ENSP00000502645.1:n.*680G>A | |
| ENST00000675403.1:n.3658G>A | ||
| ENST00000675569.1:c.*1972G>A | ENSP00000502534.1:n.*1972G>A | |
| ENST00000675588.1:n.1485G>A | ||
| ENST00000675643.1:c.2738G>A | ENSP00000502797.1:p.Gly913Asp | |
| ENST00000675691.1:c.2609G>A | ENSP00000502196.1:p.Gly870Asp | |
| ENST00000675751.1:c.*2097G>A | ENSP00000502277.1:n.*2097G>A | |
| ENST00000675853.1:c.2786G>A | ENSP00000502367.1:p.Gly929Asp | |
| ENST00000675917.1:n.3035G>A | ||
| ENST00000675953.1:c.2654G>A | ENSP00000502321.1:p.Gly885Asp | |
| ENST00000675986.1:n.3228G>A | ||
| ENST00000676004.1:c.*2737G>A | ENSP00000502765.1:n.*2737G>A | |
| ENST00000676040.1:c.*1972G>A | ENSP00000502108.1:n.*1972G>A | |
| ENST00000676168.1:c.*348G>A | ENSP00000502479.1:n.*348G>A | |
| ENST00000676209.1:c.*1090G>A | ENSP00000502052.1:n.*1090G>A | |
| ENST00000676211.1:c.*1765G>A | ENSP00000502726.1:n.*1765G>A | |
| ENST00000676212.1:c.*427G>A | ENSP00000501853.1:n.*427G>A | |
| ENST00000676247.1:c.*1422G>A | ENSP00000502699.1:n.*1422G>A | |
| ENST00000261772.12:c.2738G>A | ENSP00000261772.7:p.Gly913Asp | |
| NM_001605.2:c.2738G>A , LRG_359t1:c.2738G>A | NP_001596.2:p.Gly913Asp | |
| XR_933220.1:n.2704G>A | ||
| XR_933220.3:n.2663G>A | ||
| NM_001605.3:c.2738G>A MANE Select | NP_001596.2:p.Gly913Asp |