Linked Data
ClinVar Variation Id:
299099
dbSNP Id:
rs12248515
gnomAD v2:
10-124813543-C-T
gnomAD v3:
10-123054027-C-T
gnomAD v4:
10-123054027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123054027C>T , CM000672.2:g.123054027C>T | GRCh38 |
| NC_000010.10:g.124813543C>T , CM000672.1:g.124813543C>T | GRCh37 |
| NC_000010.9:g.124803533C>T | NCBI36 |
| NG_008003.1:g.50115C>T , LRG_451:g.50115C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358776.7:c.*262C>T MANE Select | ENSP00000357873.3:n.*262C>T | |
| ENST00000358776.6:c.*262C>T | ENSP00000357873.3:n.*262C>T | |
| ENST00000368869.8:c.*262C>T | ENSP00000357862.4:n.*262C>T | |
| NM_001609.3:c.*262C>T , LRG_451t1:c.*262C>T | NP_001600.1:n.*262C>T | |
| NM_001330174.1:c.*262C>T | NP_001317103.1:n.*262C>T | |
| NM_001330174.2:c.*262C>T | NP_001317103.1:n.*262C>T | |
| NM_001609.4:c.*262C>T MANE Select | NP_001600.1:n.*262C>T | |
| NM_001330174.3:c.*262C>T | NP_001317103.1:n.*262C>T |