Linked Data
ClinVar Variation Id:
40566
ClinVar RCV Id:
RCV000033553
RCV000055888
RCV000210041
RCV000589512
RCV000619738
RCV000679882
RCV000824751
RCV002251945
RCV004545736
dbSNP Id:
rs397507549
COSMIC:
COSM4167608
PubMed:
PMID:15889278
PMID:16358218
PMID:16733669
PMID:18241070
PMID:18505544
PMID:19077116
PMID:19273734
PMID:19582499
PMID:20301557
PMID:20954246
PMID:21677813
PMID:21803945
PMID:21910226
PMID:22058153
PMID:22781091
PMID:23673659
PMID:24935154
PMID:25359717
PMID:25708222
PMID:25724491
PMID:26742426
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112489104C>G , CM000674.2:g.112489104C>G | GRCh38 |
| NC_000012.11:g.112926908C>G , CM000674.1:g.112926908C>G | GRCh37 |
| NC_000012.10:g.111411291C>G | NCBI36 |
| NG_007459.1:g.75373C>G , LRG_614:g.75373C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1528C>G | ENSP00000491593.2:p.Gln510Glu | |
| ENST00000685487.1:c.1528C>G | ENSP00000508503.1:p.Gln510Glu | |
| ENST00000687624.1:n.193C>G | ||
| ENST00000687906.1:c.1414C>G | ENSP00000509536.1:p.Gln472Glu | |
| ENST00000688597.1:c.1224+6899C>G | ENSP00000510628.1:n.1224+6899C>G | |
| ENST00000688701.1:n.772C>G | ||
| ENST00000690210.1:c.1528C>G | ENSP00000509272.1:p.Gln510Glu | |
| ENST00000690472.1:n.737C>G | ||
| ENST00000692624.1:c.*74C>G | ENSP00000508953.1:n.*74C>G | |
| ENST00000351677.7:c.1528C>G MANE Select | ENSP00000340944.3:p.Gln510Glu | |
| ENST00000351677.6:c.1528C>G | ENSP00000340944.2:p.Gln510Glu | |
| ENST00000635625.1:c.1540C>G | ENSP00000489597.1:p.Gln514Glu | |
| ENST00000635652.1:c.541C>G | ENSP00000489541.1:p.Gln181Glu | |
| NM_002834.3:c.1528C>G , LRG_614t1:c.1528C>G | NP_002825.3:p.Gln510Glu | |
| XM_006719526.1:c.1540C>G | XP_006719589.1:p.Gln514Glu | |
| XM_006719527.1:c.1426C>G | XP_006719590.1:p.Gln476Glu | |
| XM_011538613.1:c.1537C>G | XP_011536915.1:p.Gln513Glu | |
| NM_001330437.1:c.1540C>G | NP_001317366.1:p.Gln514Glu | |
| NM_002834.4:c.1528C>G | NP_002825.3:p.Gln510Glu | |
| XM_011538613.2:c.1537C>G | XP_011536915.1:p.Gln513Glu | |
| XM_017019722.1:c.1525C>G | XP_016875211.1:p.Gln509Glu | |
| NM_001330437.2:c.1540C>G | NP_001317366.1:p.Gln514Glu | |
| NM_001374625.1:c.1525C>G | NP_001361554.1:p.Gln509Glu | |
| NM_002834.5:c.1528C>G MANE Select | NP_002825.3:p.Gln510Glu |