Linked Data
ClinVar Variation Id:
299144
ClinVar RCV Id:
RCV000367964
dbSNP Id:
rs116019965
gnomAD v2:
10-124816580-C-G
gnomAD v3:
10-123057064-C-G
gnomAD v4:
10-123057064-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123057064C>G , CM000672.2:g.123057064C>G | GRCh38 |
| NC_000010.10:g.124816580C>G , CM000672.1:g.124816580C>G | GRCh37 |
| NC_000010.9:g.124806570C>G | NCBI36 |
| NG_008003.1:g.53152C>G , LRG_451:g.53152C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.*3299C>G MANE Select | ENSP00000357873.3:n.*3299C>G | |
| ENST00000358776.6:c.*3299C>G | ENSP00000357873.3:n.*3299C>G | |
| NM_001609.3:c.*3299C>G , LRG_451t1:c.*3299C>G | NP_001600.1:n.*3299C>G | |
| NM_001330174.1:c.*3299C>G | NP_001317103.1:n.*3299C>G | |
| NM_001330174.2:c.*3299C>G | NP_001317103.1:n.*3299C>G | |
| NM_001609.4:c.*3299C>G MANE Select | NP_001600.1:n.*3299C>G | |
| NM_001330174.3:c.*3299C>G | NP_001317103.1:n.*3299C>G |