Linked Data
ClinVar Variation Id:
299134
ClinVar RCV Id:
RCV000282249
dbSNP Id:
rs7914164
gnomAD v2:
10-124815771-T-C
gnomAD v3:
10-123056255-T-C
gnomAD v4:
10-123056255-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123056255T>C , CM000672.2:g.123056255T>C | GRCh38 |
| NC_000010.10:g.124815771T>C , CM000672.1:g.124815771T>C | GRCh37 |
| NC_000010.9:g.124805761T>C | NCBI36 |
| NG_008003.1:g.52343T>C , LRG_451:g.52343T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.*2490T>C MANE Select | ENSP00000357873.3:n.*2490T>C | |
| ENST00000358776.6:c.*2490T>C | ENSP00000357873.3:n.*2490T>C | |
| NM_001609.3:c.*2490T>C , LRG_451t1:c.*2490T>C | NP_001600.1:n.*2490T>C | |
| NM_001330174.1:c.*2490T>C | NP_001317103.1:n.*2490T>C | |
| NM_001330174.2:c.*2490T>C | NP_001317103.1:n.*2490T>C | |
| NM_001609.4:c.*2490T>C MANE Select | NP_001600.1:n.*2490T>C | |
| NM_001330174.3:c.*2490T>C | NP_001317103.1:n.*2490T>C |