Linked Data
ClinVar Variation Id:
376131
ClinVar RCV Id:
RCV003766179
dbSNP Id:
rs1057519780
gnomAD v4:
1-11127800-C-T
COSMIC:
COSM5885142
CIViC:
CA16602589
PubMed:
PMID:24625776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11127800C>T , CM000663.2:g.11127800C>T | GRCh38 |
| NC_000001.10:g.11187857C>T , CM000663.1:g.11187857C>T | GRCh37 |
| NC_000001.9:g.11110444C>T | NCBI36 |
| NG_033239.1:g.139752G>A , LRG_734:g.139752G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703118.1:c.*1415G>A | ENSP00000515181.1:n.*1415G>A | |
| ENST00000703131.1:n.2041G>A | ||
| ENST00000703139.1:c.677G>A | ||
| ENST00000703140.1:c.5827G>A | ENSP00000515197.1:p.Glu1943Lys | |
| ENST00000703141.1:c.*1557G>A | ENSP00000515198.1:n.*1557G>A | |
| ENST00000703142.1:c.*2870G>A | ENSP00000515199.1:n.*2870G>A | |
| ENST00000361445.9:c.6040G>A MANE Select | ENSP00000354558.4:p.Glu2014Lys | |
| ENST00000361445.8:c.6040G>A | ENSP00000354558.4:p.Glu2014Lys | |
| ENST00000376838.5:c.655G>A | ENSP00000366034.1:p.Glu219Lys | |
| NM_004958.3:c.6040G>A , LRG_734t1:c.6040G>A | NP_004949.1:p.Glu2014Lys | |
| XM_005263438.1:c.6040G>A | XP_005263495.1:p.Glu2014Lys | |
| XR_244786.1:n.6161G>A | ||
| XM_005263438.2:c.6040G>A | XP_005263495.1:p.Glu2014Lys | |
| XM_017000900.1:c.5359G>A | XP_016856389.1:p.Glu1787Lys | |
| XM_017000901.1:c.4792G>A | XP_016856390.1:p.Glu1598Lys | |
| XM_024446187.1:c.6040G>A | XP_024301955.1:p.Glu2014Lys | |
| XR_001737087.1:n.6161G>A | ||
| NM_004958.4:c.6040G>A MANE Select | NP_004949.1:p.Glu2014Lys | |
| NM_001386500.1:c.6040G>A | NP_001373429.1:p.Glu2014Lys | |
| NM_001386501.1:c.4792G>A | NP_001373430.1:p.Glu1598Lys |