Linked Data
ClinVar Variation Id:
11907
ClinVar RCV Id:
RCV000012682
dbSNP Id:
rs121917892
PubMed:
PMID:9042911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737583T>G , CM000665.2:g.124737583T>G | GRCh38 |
| NC_000003.11:g.124456430T>G , CM000665.1:g.124456430T>G | GRCh37 |
| NC_000003.10:g.125939120T>G | NCBI36 |
| NG_017037.1:g.12218T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232607.7:c.326T>G MANE Select | ENSP00000232607.2:p.Val109Gly | |
| ENST00000232607.6:c.326T>G | ENSP00000232607.2:p.Val109Gly | |
| ENST00000460034.5:c.*70T>G | ENSP00000420409.1:n.*70T>G | |
| ENST00000462091.5:c.172T>G | ENSP00000417893.1:p.Ter58Glu | |
| ENST00000467167.5:c.*224T>G | ENSP00000419618.1:n.*224T>G | |
| ENST00000474588.5:c.311-332T>G | ENSP00000420348.1:n.311-332T>G | |
| ENST00000479719.5:c.326T>G | ENSP00000420754.1:p.Val109Gly | |
| ENST00000497791.5:c.172T>G | ENSP00000419121.1:p.Ter58Glu | |
| ENST00000498715.1:n.44T>G | ||
| NM_000373.3:c.326T>G | NP_000364.1:p.Val109Gly | |
| NR_033434.1:n.278T>G | ||
| NR_033437.1:n.531T>G | ||
| XR_001740253.2:n.356T>G | ||
| NM_000373.4:c.326T>G MANE Select | NP_000364.1:p.Val109Gly | |
| NR_033434.2:n.192T>G | ||
| NR_033437.2:n.445T>G |