Linked Data
ClinVar Variation Id:
299143
ClinVar RCV Id:
RCV000311132
dbSNP Id:
rs3763738
gnomAD v2:
10-124816515-C-G
gnomAD v3:
10-123056999-C-G
gnomAD v4:
10-123056999-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123056999C>G , CM000672.2:g.123056999C>G | GRCh38 |
| NC_000010.10:g.124816515C>G , CM000672.1:g.124816515C>G | GRCh37 |
| NC_000010.9:g.124806505C>G | NCBI36 |
| NG_008003.1:g.53087C>G , LRG_451:g.53087C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.*3234C>G MANE Select | ENSP00000357873.3:n.*3234C>G | |
| ENST00000358776.6:c.*3234C>G | ENSP00000357873.3:n.*3234C>G | |
| NM_001609.3:c.*3234C>G , LRG_451t1:c.*3234C>G | NP_001600.1:n.*3234C>G | |
| NM_001330174.1:c.*3234C>G | NP_001317103.1:n.*3234C>G | |
| NM_001330174.2:c.*3234C>G | NP_001317103.1:n.*3234C>G | |
| NM_001609.4:c.*3234C>G MANE Select | NP_001600.1:n.*3234C>G | |
| NM_001330174.3:c.*3234C>G | NP_001317103.1:n.*3234C>G |