Linked Data
ClinVar Variation Id:
66011
ClinVar RCV Id:
RCV000056253
dbSNP Id:
rs398122942
PubMed:
PMID:22187496
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185143484G>A , CM000666.2:g.185143484G>A | GRCh38 |
| NC_000004.11:g.186064638G>A , CM000666.1:g.186064638G>A | GRCh37 |
| NC_000004.10:g.186301632G>A | NCBI36 |
| NG_013001.1:g.5222G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281456.11:c.111+1G>A MANE Select | ENSP00000281456.5:n.111+1G>A | |
| ENST00000281456.10:c.111+1G>A | ENSP00000281456.5:n.111+1G>A | |
| ENST00000491736.1:c.111+1G>A | ENSP00000476711.1:n.111+1G>A | |
| NM_001151.3:c.111+1G>A | NP_001142.2:n.111+1G>A | |
| NM_001151.4:c.111+1G>A MANE Select | NP_001142.2:n.111+1G>A |