Linked Data
ClinVar Variation Id:
429270
ClinVar RCV Id:
RCV000494359
dbSNP Id:
rs577885582
gnomAD v2:
16-70287688-T-C
gnomAD v3:
16-70253785-T-C
gnomAD v4:
16-70253785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70253785T>C , CM000678.2:g.70253785T>C | GRCh38 |
| NC_000016.9:g.70287688T>C , CM000678.1:g.70287688T>C | GRCh37 |
| NC_000016.8:g.68845189T>C | NCBI36 |
| NG_023191.1:g.40725A>G , LRG_359:g.40725A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2536A>G MANE Select | ENSP00000261772.8:p.Lys846Glu | |
| ENST00000565361.3:c.2629A>G | ENSP00000455360.3:p.Lys877Glu | |
| ENST00000569825.2:n.649A>G | ||
| ENST00000674512.1:c.2515A>G | ENSP00000501613.1:p.Lys839Glu | |
| ENST00000674652.1:c.*2325A>G | ENSP00000502620.1:n.*2325A>G | |
| ENST00000674691.1:c.2536A>G | ENSP00000502247.1:p.Lys846Glu | |
| ENST00000674768.1:c.*791A>G | ENSP00000501679.1:n.*791A>G | |
| ENST00000674811.1:c.*729A>G | ENSP00000502055.1:n.*729A>G | |
| ENST00000674848.1:n.2585A>G | ||
| ENST00000674962.1:n.4890A>G | ||
| ENST00000674963.1:c.2536A>G | ENSP00000501924.1:p.Lys846Glu | |
| ENST00000675035.1:c.*146A>G | ENSP00000502712.1:n.*146A>G | |
| ENST00000675045.1:c.2563A>G | ENSP00000502014.1:p.Lys855Glu | |
| ENST00000675120.1:c.*846A>G | ENSP00000502823.1:n.*846A>G | |
| ENST00000675133.1:c.2509A>G | ENSP00000502230.1:p.Lys837Glu | |
| ENST00000675270.1:n.2671A>G | ||
| ENST00000675297.1:c.*1470A>G | ENSP00000502753.1:n.*1470A>G | |
| ENST00000675371.1:c.*146A>G | ENSP00000502645.1:n.*146A>G | |
| ENST00000675403.1:n.3456A>G | ||
| ENST00000675569.1:c.*1770A>G | ENSP00000502534.1:n.*1770A>G | |
| ENST00000675588.1:n.1283A>G | ||
| ENST00000675643.1:c.2536A>G | ENSP00000502797.1:p.Lys846Glu | |
| ENST00000675691.1:c.2407A>G | ENSP00000502196.1:p.Lys803Glu | |
| ENST00000675751.1:c.*1563A>G | ENSP00000502277.1:n.*1563A>G | |
| ENST00000675853.1:c.2536A>G | ENSP00000502367.1:p.Lys846Glu | |
| ENST00000675917.1:n.2833A>G | ||
| ENST00000675953.1:c.2452A>G | ENSP00000502321.1:p.Lys818Glu | |
| ENST00000675986.1:n.2694A>G | ||
| ENST00000676004.1:c.*2535A>G | ENSP00000502765.1:n.*2535A>G | |
| ENST00000676040.1:c.*1770A>G | ENSP00000502108.1:n.*1770A>G | |
| ENST00000676168.1:c.*146A>G | ENSP00000502479.1:n.*146A>G | |
| ENST00000676209.1:c.*888A>G | ENSP00000502052.1:n.*888A>G | |
| ENST00000676211.1:c.*1563A>G | ENSP00000502726.1:n.*1563A>G | |
| ENST00000676212.1:c.*225A>G | ENSP00000501853.1:n.*225A>G | |
| ENST00000676247.1:c.*888A>G | ENSP00000502699.1:n.*888A>G | |
| ENST00000261772.12:c.2536A>G | ENSP00000261772.7:p.Lys846Glu | |
| ENST00000569825.1:n.542A>G | ||
| NM_001605.2:c.2536A>G , LRG_359t1:c.2536A>G | NP_001596.2:p.Lys846Glu | |
| XR_933220.1:n.2502A>G | ||
| XR_933220.3:n.2461A>G | ||
| NM_001605.3:c.2536A>G MANE Select | NP_001596.2:p.Lys846Glu |