Linked Data
ClinVar Variation Id:
12356
ClinVar RCV Id:
RCV000013150
RCV000115736
RCV000148913
RCV000197114
RCV000235221
RCV000417916
RCV000420727
RCV000421194
RCV000426606
RCV000426359
RCV000433424
RCV000432778
RCV000435533
RCV000437518
RCV000437291
RCV000444656
RCV000438410
RCV000439963
RCV000445244
RCV000419135
RCV000420303
RCV000421893
RCV000424869
RCV000427709
RCV000432587
RCV000437935
RCV000426233
RCV000428591
RCV000430513
RCV000441226
RCV000445235
RCV000763417
RCV000790860
RCV000785344
RCV001527465
RCV001255671
RCV001257519
RCV001270275
RCV001789749
RCV001554245
RCV003162244
RCV003332079
RCV003996090
RCV003466852
dbSNP Id:
rs11540652
ExAC:
17:7577538 C / T
gnomAD v2:
17-7577538-C-T
gnomAD v3:
17-7674220-C-T
gnomAD v4:
17-7674220-C-T
ERepo:
CA000387/MONDO:0018875/009
PubMed:
PMID:1565143
PMID:1683921
PMID:9569050
PMID:10797439
PMID:11139324
PMID:15004724
PMID:16489069
PMID:17606709
PMID:18511570
PMID:19556618
PMID:21305319
PMID:21552135
PMID:21601526
PMID:23161690
PMID:23891399
PMID:24381225
PMID:24487413
PMID:24641375
PMID:24651012
PMID:25157968
PMID:26619011
PMID:26822237
PMID:26845104
PMID:27683180
PMID:29438965
CIViC:
CA000387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7674220C>T , CM000679.2:g.7674220C>T | GRCh38 |
| NC_000017.10:g.7577538C>T , CM000679.1:g.7577538C>T | GRCh37 |
| NC_000017.9:g.7518263C>T | NCBI36 |
| NG_017013.2:g.18331G>A , LRG_321:g.18331G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503591.2:c.743G>A | ENSP00000426252.2:p.Arg248Gln | |
| ENST00000508793.6:c.743G>A | ENSP00000424104.2:p.Arg248Gln | |
| ENST00000509690.6:c.347G>A | ENSP00000425104.2:p.Arg116Gln | |
| ENST00000514944.6:c.464G>A | ENSP00000423862.2:p.Arg155Gln | |
| ENST00000604348.6:c.722G>A | ENSP00000473895.2:p.Arg241Gln | |
| ENST00000269305.9:c.743G>A MANE Select | ENSP00000269305.4:p.Arg248Gln | |
| ENST00000269305.8:c.743G>A | ENSP00000269305.4:p.Arg248Gln | |
| ENST00000359597.8:c.743G>A | ENSP00000352610.4:p.Arg248Gln | |
| ENST00000413465.6:c.743G>A | ENSP00000410739.2:p.Arg248Gln | |
| ENST00000420246.6:c.743G>A | ENSP00000391127.2:p.Arg248Gln | |
| ENST00000445888.6:c.743G>A | ENSP00000391478.2:p.Arg248Gln | |
| ENST00000455263.6:c.743G>A | ENSP00000398846.2:p.Arg248Gln | |
| ENST00000504290.5:c.347G>A | ENSP00000484409.1:p.Arg116Gln | |
| ENST00000504937.5:c.347G>A | ENSP00000481179.1:p.Arg116Gln | |
| ENST00000509690.5:c.347G>A | ENSP00000425104.1:p.Arg116Gln | |
| ENST00000510385.5:c.347G>A | ENSP00000478499.1:p.Arg116Gln | |
| ENST00000514944.5:c.464G>A | ENSP00000423862.1:p.Arg155Gln | |
| ENST00000610292.4:c.626G>A | ENSP00000478219.1:p.Arg209Gln | |
| ENST00000610538.4:c.626G>A | ENSP00000480868.1:p.Arg209Gln | |
| ENST00000610623.4:c.266G>A | ENSP00000477531.1:p.Arg89Gln | |
| ENST00000615910.4:c.710G>A | ENSP00000482903.1:p.Arg237Gln | |
| ENST00000617185.4:c.743G>A | ENSP00000482258.1:p.Arg248Gln | |
| ENST00000618944.4:c.266G>A | ENSP00000481401.1:p.Arg89Gln | |
| ENST00000619186.4:c.266G>A | ENSP00000484375.1:p.Arg89Gln | |
| ENST00000619485.4:c.626G>A | ENSP00000482537.1:p.Arg209Gln | |
| ENST00000620739.4:c.626G>A | ENSP00000481638.1:p.Arg209Gln | |
| ENST00000622645.4:c.626G>A | ENSP00000482222.1:p.Arg209Gln | |
| ENST00000635293.1:c.626G>A | ENSP00000488924.1:p.Arg209Gln | |
| NM_000546.5:c.743G>A , LRG_321t1:c.743G>A | NP_000537.3:p.Arg248Gln | |
| NM_001126112.2:c.743G>A , LRG_321t2:c.743G>A | NP_001119584.1:p.Arg248Gln | |
| NM_001126113.2:c.743G>A , LRG_321t4:c.743G>A | NP_001119585.1:p.Arg248Gln | |
| NM_001126114.2:c.743G>A , LRG_321t3:c.743G>A | NP_001119586.1:p.Arg248Gln | |
| NM_001126115.1:c.347G>A , LRG_321t5:c.347G>A | NP_001119587.1:p.Arg116Gln | |
| NM_001126116.1:c.347G>A , LRG_321t6:c.347G>A | NP_001119588.1:p.Arg116Gln | |
| NM_001126117.1:c.347G>A , LRG_321t7:c.347G>A | NP_001119589.1:p.Arg116Gln | |
| NM_001126118.1:c.626G>A , LRG_321t8:c.626G>A | NP_001119590.1:p.Arg209Gln | |
| NM_001276695.1:c.626G>A | NP_001263624.1:p.Arg209Gln | |
| NM_001276696.1:c.626G>A | NP_001263625.1:p.Arg209Gln | |
| NM_001276697.1:c.266G>A | NP_001263626.1:p.Arg89Gln | |
| NM_001276698.1:c.266G>A | NP_001263627.1:p.Arg89Gln | |
| NM_001276699.1:c.266G>A | NP_001263628.1:p.Arg89Gln | |
| NM_001276760.1:c.626G>A | NP_001263689.1:p.Arg209Gln | |
| NM_001276761.1:c.626G>A | NP_001263690.1:p.Arg209Gln | |
| NM_001276695.2:c.626G>A | NP_001263624.1:p.Arg209Gln | |
| NM_001276696.2:c.626G>A | NP_001263625.1:p.Arg209Gln | |
| NM_001276697.2:c.266G>A | NP_001263626.1:p.Arg89Gln | |
| NM_001276698.2:c.266G>A | NP_001263627.1:p.Arg89Gln | |
| NM_001276699.2:c.266G>A | NP_001263628.1:p.Arg89Gln | |
| NM_001276760.2:c.626G>A | NP_001263689.1:p.Arg209Gln | |
| NM_001276761.2:c.626G>A | NP_001263690.1:p.Arg209Gln | |
| NM_000546.6:c.743G>A MANE Select | NP_000537.3:p.Arg248Gln | |
| NM_001126112.3:c.743G>A | NP_001119584.1:p.Arg248Gln | |
| NM_001126113.3:c.743G>A | NP_001119585.1:p.Arg248Gln | |
| NM_001126114.3:c.743G>A | NP_001119586.1:p.Arg248Gln | |
| NM_001126115.2:c.347G>A | NP_001119587.1:p.Arg116Gln | |
| NM_001126116.2:c.347G>A | NP_001119588.1:p.Arg116Gln | |
| NM_001126117.2:c.347G>A | NP_001119589.1:p.Arg116Gln | |
| NM_001126118.2:c.626G>A | NP_001119590.1:p.Arg209Gln | |
| NM_001276695.3:c.626G>A | NP_001263624.1:p.Arg209Gln | |
| NM_001276696.3:c.626G>A | NP_001263625.1:p.Arg209Gln | |
| NM_001276697.3:c.266G>A | NP_001263626.1:p.Arg89Gln | |
| NM_001276698.3:c.266G>A | NP_001263627.1:p.Arg89Gln | |
| NM_001276699.3:c.266G>A | NP_001263628.1:p.Arg89Gln | |
| NM_001276760.3:c.626G>A | NP_001263689.1:p.Arg209Gln | |
| NM_001276761.3:c.626G>A | NP_001263690.1:p.Arg209Gln |