Linked Data
ClinVar Variation Id:
299157
ClinVar RCV Id:
RCV000310382
dbSNP Id:
rs74159956
gnomAD v2:
10-124817416-G-A
gnomAD v3:
10-123057900-G-A
gnomAD v4:
10-123057900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123057900G>A , CM000672.2:g.123057900G>A | GRCh38 |
| NC_000010.10:g.124817416G>A , CM000672.1:g.124817416G>A | GRCh37 |
| NC_000010.9:g.124807406G>A | NCBI36 |
| NG_008003.1:g.53988G>A , LRG_451:g.53988G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.*4135G>A MANE Select | ENSP00000357873.3:n.*4135G>A | |
| ENST00000358776.6:c.*4135G>A | ENSP00000357873.3:n.*4135G>A | |
| NM_001609.3:c.*4135G>A , LRG_451t1:c.*4135G>A | NP_001600.1:n.*4135G>A | |
| NM_001330174.1:c.*4135G>A | NP_001317103.1:n.*4135G>A | |
| NM_001330174.2:c.*4135G>A | NP_001317103.1:n.*4135G>A | |
| NM_001609.4:c.*4135G>A MANE Select | NP_001600.1:n.*4135G>A | |
| NM_001330174.3:c.*4135G>A | NP_001317103.1:n.*4135G>A |