Linked Data
ClinVar Variation Id:
2920029
ClinVar RCV Id:
RCV003613012
dbSNP Id:
rs185589534
ExAC:
10:112337581 A / G
gnomAD v2:
10-112337581-A-G
gnomAD v3:
10-110577823-A-G
gnomAD v4:
10-110577823-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110577823A>G , CM000672.2:g.110577823A>G | GRCh38 |
| NC_000010.10:g.112337581A>G , CM000672.1:g.112337581A>G | GRCh37 |
| NC_000010.9:g.112327571A>G | NCBI36 |
| NG_012217.1:g.15133A>G , LRG_774:g.15133A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.404-12A>G | ||
| ENST00000687823.1:n.185-12A>G | ||
| ENST00000689932.1:n.2334-12A>G | ||
| ENST00000691297.1:n.404-12A>G | ||
| ENST00000691527.1:n.361-12A>G | ||
| ENST00000692792.1:n.390-12A>G | ||
| ENST00000361804.5:c.271-12A>G MANE Select | ENSP00000354720.5:n.271-12A>G | |
| ENST00000361804.4:c.271-12A>G | ENSP00000354720.4:n.271-12A>G | |
| ENST00000462899.1:n.417-12A>G | ||
| NM_005445.3:c.271-12A>G , LRG_774t1:c.271-12A>G | NP_005436.1:n.271-12A>G | |
| NM_005445.4:c.271-12A>G MANE Select | NP_005436.1:n.271-12A>G |