Linked Data
ClinVar Variation Id:
1961635
ClinVar RCV Id:
RCV002720822
dbSNP Id:
rs920716119
gnomAD v2:
6-31914142-C-G
gnomAD v4:
6-31946365-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946365C>G , CM000668.2:g.31946365C>G | GRCh38 |
| NC_000006.11:g.31914142C>G , CM000668.1:g.31914142C>G | GRCh37 |
| NC_000006.10:g.32022121C>G | NCBI36 |
| NG_008191.1:g.5422C>G , LRG_136:g.5422C>G | |
| NG_011730.1:g.23877C>G , LRG_26:g.23877C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.242-8C>G | ||
| ENST00000483004.2:c.65-8C>G | ENSP00000419887.2:n.65-8C>G | |
| ENST00000497841.6:c.65-8C>G | ENSP00000513847.1:n.65-8C>G | |
| ENST00000698628.1:c.65-8C>G | ENSP00000513848.1:n.65-8C>G | |
| ENST00000698629.1:n.242-8C>G | ||
| ENST00000698630.1:n.226-8C>G | ||
| ENST00000698631.1:n.221-8C>G | ||
| ENST00000698632.1:n.193-8C>G | ||
| ENST00000698633.1:n.163-8C>G | ||
| ENST00000698636.1:n.287-8C>G | ||
| ENST00000425368.7:c.65-8C>G MANE Select | ENSP00000416561.2:n.65-8C>G | |
| ENST00000425368.6:c.65-8C>G | ENSP00000416561.2:n.65-8C>G | |
| ENST00000452035.6:n.65-8C>G | ||
| ENST00000456570.5:c.1571-8C>G | ENSP00000410815.1:n.1571-8C>G | |
| ENST00000460718.5:c.64+80C>G | ENSP00000417793.1:n.64+80C>G | |
| ENST00000472581.1:n.312-8C>G | ||
| ENST00000475617.5:c.65-8C>G | ENSP00000420090.1:n.65-8C>G | |
| ENST00000477310.1:c.1352-642C>G | ENSP00000418996.1:n.1352-642C>G | |
| NM_001710.5:c.65-8C>G , LRG_136t1:c.65-8C>G | NP_001701.2:n.65-8C>G | |
| NM_001710.6:c.65-8C>G MANE Select | NP_001701.2:n.65-8C>G |