Linked Data
ClinVar Variation Id:
417724
ClinVar RCV Id:
RCV000477677
dbSNP Id:
rs1085307113
COSMIC:
COSM1185313
PubMed:
PMID:25799227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11114338A>T , CM000663.2:g.11114338A>T | GRCh38 |
| NC_000001.10:g.11174395A>T , CM000663.1:g.11174395A>T | GRCh37 |
| NC_000001.9:g.11096982A>T | NCBI36 |
| NG_033239.1:g.153214T>A , LRG_734:g.153214T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703118.1:c.*2655T>A | ENSP00000515181.1:n.*2655T>A | |
| ENST00000703131.1:n.3198T>A | ||
| ENST00000703139.1:c.2068T>A | ||
| ENST00000703140.1:c.7067T>A | ENSP00000515197.1:p.Leu2356Gln | |
| ENST00000703141.1:c.*2797T>A | ENSP00000515198.1:n.*2797T>A | |
| ENST00000703142.1:c.*4110T>A | ENSP00000515199.1:n.*4110T>A | |
| ENST00000361445.9:c.7280T>A MANE Select | ENSP00000354558.4:p.Leu2427Gln | |
| ENST00000361445.8:c.7280T>A | ENSP00000354558.4:p.Leu2427Gln | |
| ENST00000376838.5:c.1895T>A | ENSP00000366034.1:p.Leu632Gln | |
| ENST00000455339.1:c.248T>A | ENSP00000398745.1:p.Leu83Gln | |
| ENST00000473471.5:n.292T>A | ||
| ENST00000490931.1:n.323T>A | ||
| NM_004958.3:c.7280T>A , LRG_734t1:c.7280T>A | NP_004949.1:p.Leu2427Gln | |
| XM_005263438.1:c.7280T>A | XP_005263495.1:p.Leu2427Gln | |
| XR_244786.1:n.7318T>A | ||
| XM_005263438.2:c.7280T>A | XP_005263495.1:p.Leu2427Gln | |
| XM_017000900.1:c.6599T>A | XP_016856389.1:p.Leu2200Gln | |
| XM_017000901.1:c.6032T>A | XP_016856390.1:p.Leu2011Gln | |
| XM_024446187.1:c.7280T>A | XP_024301955.1:p.Leu2427Gln | |
| XR_001737087.1:n.7318T>A | ||
| NM_004958.4:c.7280T>A MANE Select | NP_004949.1:p.Leu2427Gln | |
| NM_001386500.1:c.7280T>A | NP_001373429.1:p.Leu2427Gln | |
| NM_001386501.1:c.6032T>A | NP_001373430.1:p.Leu2011Gln |