Linked Data
ClinVar Variation Id:
4678
ClinVar RCV Id:
RCV000004942
dbSNP Id:
rs119477054
gnomAD v4:
15-43082648-T-C
PubMed:
PMID:16311597
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43082648T>C , CM000677.2:g.43082648T>C | GRCh38 |
| NC_000015.9:g.43374846T>C , CM000677.1:g.43374846T>C | GRCh37 |
| NC_000015.8:g.41162138T>C | NCBI36 |
| NG_012182.1:g.28441A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.407A>G MANE Select | ENSP00000290650.4:p.His136Arg | |
| ENST00000290650.8:c.407A>G | ENSP00000290650.4:p.His136Arg | |
| ENST00000546274.6:c.407A>G | ENSP00000477932.1:p.His136Arg | |
| ENST00000563239.1:c.*54A>G | ENSP00000456502.1:n.*54A>G | |
| NM_174916.2:c.407A>G | NP_777576.1:p.His136Arg | |
| NM_174916.3:c.407A>G MANE Select | NP_777576.1:p.His136Arg |