Linked Data
ClinVar Variation Id:
299104
ClinVar RCV Id:
RCV000359220
dbSNP Id:
rs189484621
gnomAD v2:
10-124813754-G-C
gnomAD v3:
10-123054238-G-C
gnomAD v4:
10-123054238-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123054238G>C , CM000672.2:g.123054238G>C | GRCh38 |
| NC_000010.10:g.124813754G>C , CM000672.1:g.124813754G>C | GRCh37 |
| NC_000010.9:g.124803744G>C | NCBI36 |
| NG_008003.1:g.50326G>C , LRG_451:g.50326G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.*473G>C MANE Select | ENSP00000357873.3:n.*473G>C | |
| ENST00000358776.6:c.*473G>C | ENSP00000357873.3:n.*473G>C | |
| NM_001609.3:c.*473G>C , LRG_451t1:c.*473G>C | NP_001600.1:n.*473G>C | |
| NM_001330174.1:c.*473G>C | NP_001317103.1:n.*473G>C | |
| NM_001330174.2:c.*473G>C | NP_001317103.1:n.*473G>C | |
| NM_001609.4:c.*473G>C MANE Select | NP_001600.1:n.*473G>C | |
| NM_001330174.3:c.*473G>C | NP_001317103.1:n.*473G>C |