Linked Data
ClinVar Variation Id:
190103
ClinVar RCV Id:
RCV000170342
RCV000236870
RCV000556774
RCV000999715
RCV003311704
RCV003335174
RCV002460950
dbSNP Id:
rs143370729
ExAC:
16:70289666 T / C
gnomAD v2:
16-70289666-T-C
gnomAD v3:
16-70255763-T-C
gnomAD v4:
16-70255763-T-C
PubMed:
PMID:25817015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255763T>C , CM000678.2:g.70255763T>C | GRCh38 |
| NC_000016.9:g.70289666T>C , CM000678.1:g.70289666T>C | GRCh37 |
| NC_000016.8:g.68847167T>C | NCBI36 |
| NG_023191.1:g.38747A>G , LRG_359:g.38747A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2251A>G MANE Select | ENSP00000261772.8:p.Arg751Gly | |
| ENST00000564359.6:n.2224A>G | ||
| ENST00000565361.3:c.2251A>G | ENSP00000455360.3:p.Arg751Gly | |
| ENST00000674512.1:c.2230A>G | ENSP00000501613.1:p.Arg744Gly | |
| ENST00000674652.1:c.*2040A>G | ENSP00000502620.1:n.*2040A>G | |
| ENST00000674691.1:c.2251A>G | ENSP00000502247.1:p.Arg751Gly | |
| ENST00000674768.1:c.*506A>G | ENSP00000501679.1:n.*506A>G | |
| ENST00000674811.1:c.*444A>G | ENSP00000502055.1:n.*444A>G | |
| ENST00000674848.1:n.2300A>G | ||
| ENST00000674962.1:n.4605A>G | ||
| ENST00000674963.1:c.2251A>G | ENSP00000501924.1:p.Arg751Gly | |
| ENST00000675035.1:c.2231A>G | ENSP00000502712.1:p.Glu744Gly | |
| ENST00000675045.1:c.2278A>G | ENSP00000502014.1:p.Arg760Gly | |
| ENST00000675120.1:c.*561A>G | ENSP00000502823.1:n.*561A>G | |
| ENST00000675133.1:c.2224A>G | ENSP00000502230.1:p.Arg742Gly | |
| ENST00000675270.1:n.2386A>G | ||
| ENST00000675297.1:c.*603A>G | ENSP00000502753.1:n.*603A>G | |
| ENST00000675371.1:c.2066A>G | ENSP00000502645.1:p.Glu689Gly | |
| ENST00000675403.1:n.3171A>G | ||
| ENST00000675569.1:c.*1485A>G | ENSP00000502534.1:n.*1485A>G | |
| ENST00000675643.1:c.2251A>G | ENSP00000502797.1:p.Arg751Gly | |
| ENST00000675691.1:c.2122A>G | ENSP00000502196.1:p.Arg708Gly | |
| ENST00000675751.1:c.*1278A>G | ENSP00000502277.1:n.*1278A>G | |
| ENST00000675853.1:c.2251A>G | ENSP00000502367.1:p.Arg751Gly | |
| ENST00000675917.1:n.2548A>G | ||
| ENST00000675953.1:c.2167A>G | ENSP00000502321.1:p.Arg723Gly | |
| ENST00000675986.1:n.2409A>G | ||
| ENST00000676004.1:c.*2250A>G | ENSP00000502765.1:n.*2250A>G | |
| ENST00000676040.1:c.*1485A>G | ENSP00000502108.1:n.*1485A>G | |
| ENST00000676065.1:n.568A>G | ||
| ENST00000676168.1:c.2066A>G | ENSP00000502479.1:p.Glu689Gly | |
| ENST00000676209.1:c.*603A>G | ENSP00000502052.1:n.*603A>G | |
| ENST00000676211.1:c.*1278A>G | ENSP00000502726.1:n.*1278A>G | |
| ENST00000676212.1:c.2251A>G | ENSP00000501853.1:p.Arg751Gly | |
| ENST00000676247.1:c.*603A>G | ENSP00000502699.1:n.*603A>G | |
| ENST00000261772.12:c.2251A>G | ENSP00000261772.7:p.Arg751Gly | |
| ENST00000564359.5:n.562A>G | ||
| ENST00000565361.2:c.596A>G | ||
| ENST00000569825.1:n.257A>G | ||
| NM_001605.2:c.2251A>G , LRG_359t1:c.2251A>G | NP_001596.2:p.Arg751Gly | |
| XR_933220.1:n.2217A>G | ||
| XR_933220.3:n.2176A>G | ||
| NM_001605.3:c.2251A>G MANE Select | NP_001596.2:p.Arg751Gly |