Linked Data
ClinVar Variation Id:
16763
ClinVar RCV Id:
RCV000018249
dbSNP Id:
rs267607068
PubMed:
PMID:19478460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414744A>T , CM000667.2:g.1414744A>T | GRCh38 |
| NC_000005.9:g.1414859A>T , CM000667.1:g.1414859A>T | GRCh37 |
| NC_000005.8:g.1467859A>T | NCBI36 |
| NG_015885.1:g.35685T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270349.12:c.1103T>A MANE Select | ENSP00000270349.9:p.Leu368Gln | |
| ENST00000270349.11:c.1103T>A | ENSP00000270349.9:p.Leu368Gln | |
| ENST00000511750.1:n.553T>A | ||
| NM_001044.4:c.1103T>A | NP_001035.1:p.Leu368Gln | |
| NM_001044.5:c.1103T>A MANE Select | NP_001035.1:p.Leu368Gln |