Linked Data
ClinVar Variation Id:
1545241
ClinVar RCV Id:
RCV002167755
dbSNP Id:
rs949252072
gnomAD v4:
13-76991966-G-A
MyVariant Identifiers:
chr13:g.77566101G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76991966G>A , CM000675.2:g.76991966G>A | GRCh38 |
| NC_000013.10:g.77566101G>A , CM000675.1:g.77566101G>A | GRCh37 |
| NC_000013.9:g.76464102G>A | NCBI36 |
| NG_009064.1:g.5043G>A , LRG_692:g.5043G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-133G>A | ENSP00000490181.2:n.-133G>A | |
| ENST00000377453.7:c.15G>A | ENSP00000366673.3:p.Leu5= | |
| NM_006493.2:c.15G>A , LRG_692t1:c.15G>A | NP_006484.1:p.Leu5= | |
| XM_011534917.1:c.15G>A | XP_011533219.1:p.Leu5= |