Linked Data
ClinVar Variation Id:
4680
ClinVar RCV Id:
RCV000004944
dbSNP Id:
rs119477055
gnomAD v3:
15-43048394-G-A
gnomAD v4:
15-43048394-G-A
PubMed:
PMID:16311597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43048394G>A , CM000677.2:g.43048394G>A | GRCh38 |
| NC_000015.9:g.43340592G>A , CM000677.1:g.43340592G>A | GRCh37 |
| NC_000015.8:g.41127884G>A | NCBI36 |
| NG_012182.1:g.62695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.1537C>T MANE Select | ENSP00000290650.4:p.Gln513Ter | |
| ENST00000290650.8:c.1537C>T | ENSP00000290650.4:p.Gln513Ter | |
| ENST00000546274.6:c.1537C>T | ENSP00000477932.1:p.Gln513Ter | |
| ENST00000563239.1:c.*203-1105C>T | ENSP00000456502.1:n.*203-1105C>T | |
| ENST00000569971.5:c.408C>T | ENSP00000455759.1:n.408C>T | |
| NM_174916.2:c.1537C>T | NP_777576.1:p.Gln513Ter | |
| NM_174916.3:c.1537C>T MANE Select | NP_777576.1:p.Gln513Ter |