Linked Data
ClinVar Variation Id:
1268290
ClinVar RCV Id:
RCV001685616
dbSNP Id:
rs4147581
ExAC:
11:67351585 C / G
gnomAD v2:
11-67351585-C-G
gnomAD v3:
11-67584114-C-G
gnomAD v4:
11-67584114-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584114C>G , CM000673.2:g.67584114C>G | GRCh38 |
| NC_000011.9:g.67351585C>G , CM000673.1:g.67351585C>G | GRCh37 |
| NC_000011.8:g.67108161C>G | NCBI36 |
| NG_012075.1:g.5520C>G , LRG_723:g.5520C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.2-20C>G | ENSP00000381604.1:n.2-20C>G | |
| ENST00000398606.10:c.2-20C>G MANE Select | ENSP00000381607.3:n.2-20C>G | |
| ENST00000646888.1:c.2-20C>G | ENSP00000494477.1:n.2-20C>G | |
| ENST00000398603.5:c.2-20C>G | ENSP00000381604.1:n.2-20C>G | |
| ENST00000398606.7:c.2-20C>G | ENSP00000381607.3:n.2-20C>G | |
| ENST00000494593.1:n.24-20C>G | ||
| NM_000852.3:c.2-20C>G , LRG_723t1:c.2-20C>G | NP_000843.1:n.2-20C>G | |
| NM_000852.4:c.2-20C>G MANE Select | NP_000843.1:n.2-20C>G |