Linked Data
ClinVar Variation Id:
225397
ClinVar RCV Id:
RCV000490378
dbSNP Id:
rs2229013
ExAC:
X:8503796 C / T
gnomAD v2:
X-8503796-C-T
gnomAD v3:
X-8535755-C-T
gnomAD v4:
X-8535755-C-T
PubMed:
PMID:23410897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8535755C>T , CM000685.2:g.8535755C>T | GRCh38 |
| NC_000023.10:g.8503796C>T , CM000685.1:g.8503796C>T | GRCh37 |
| NC_000023.9:g.8463796C>T | NCBI36 |
| NG_007088.1:g.201432G>A | |
| NG_007088.2:g.201432G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.1678G>A MANE Select | ENSP00000262648.3:p.Val560Ile | |
| ENST00000262648.7:c.1678G>A | ENSP00000262648.3:p.Val560Ile | |
| ENST00000481896.1:n.223G>A | ||
| ENST00000619786.1:c.1675G>A | ENSP00000478734.1:p.Val559Ile | |
| NM_000216.2:c.1678G>A | NP_000207.2:p.Val560Ile | |
| NM_000216.3:c.1678G>A | NP_000207.2:p.Val560Ile | |
| NM_000216.4:c.1678G>A MANE Select | NP_000207.2:p.Val560Ile |