Linked Data
ClinVar Variation Id:
320013
ClinVar RCV Id:
RCV000395956
dbSNP Id:
rs886052182
gnomAD v2:
16-57494670-A-G
gnomAD v3:
16-57460758-A-G
gnomAD v4:
16-57460758-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57460758A>G , CM000678.2:g.57460758A>G | GRCh38 |
| NC_000016.9:g.57494670A>G , CM000678.1:g.57494670A>G | GRCh37 |
| NC_000016.8:g.56052171A>G | NCBI36 |
| NG_027696.1:g.18334A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.*134A>G MANE Select | ENSP00000262507.5:n.*134A>G | |
| ENST00000262507.10:c.*134A>G | ENSP00000262507.5:n.*134A>G | |
| ENST00000563166.1:c.304-414A>G | ENSP00000455495.1:n.304-414A>G | |
| ENST00000567072.5:c.*134A>G | ENSP00000456728.1:n.*134A>G | |
| ENST00000567933.5:c.*134A>G | ENSP00000456174.1:n.*134A>G | |
| ENST00000569980.1:n.606A>G | ||
| NM_020312.3:c.*134A>G | NP_064708.1:n.*134A>G | |
| NM_020312.4:c.*134A>G MANE Select | NP_064708.1:n.*134A>G |