Linked Data
ClinVar Variation Id:
383692
ClinVar RCV Id:
RCV000431742
dbSNP Id:
rs554524153
ExAC:
13:77566076 G / C
gnomAD v2:
13-77566076-G-C
gnomAD v3:
13-76991941-G-C
gnomAD v4:
13-76991941-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.76991941G>C , CM000675.2:g.76991941G>C | GRCh38 |
| NC_000013.10:g.77566076G>C , CM000675.1:g.77566076G>C | GRCh37 |
| NC_000013.9:g.76464077G>C | NCBI36 |
| NG_009064.1:g.5018G>C , LRG_692:g.5018G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636183.2:c.-158G>C | ENSP00000490181.2:n.-158G>C | |
| ENST00000377453.7:c.-11G>C | ENSP00000366673.3:n.-11G>C | |
| NM_006493.2:c.-11G>C , LRG_692t1:c.-11G>C | NP_006484.1:n.-11G>C | |
| XM_011534917.1:c.-11G>C | XP_011533219.1:n.-11G>C |