Linked Data
ClinVar Variation Id:
681103
ClinVar RCV Id:
RCV000840947
dbSNP Id:
rs776299348
ExAC:
1:197069998 G / C
gnomAD v2:
1-197069998-G-C
gnomAD v3:
1-197100868-G-C
gnomAD v4:
1-197100868-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197100868G>C , CM000663.2:g.197100868G>C | GRCh38 |
| NC_000001.10:g.197069998G>C , CM000663.1:g.197069998G>C | GRCh37 |
| NC_000001.9:g.195336621G>C | NCBI36 |
| NG_015867.1:g.50827C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2108-4704C>G | ||
| ENST00000367409.9:c.8383C>G MANE Select | ENSP00000356379.4:p.Gln2795Glu | |
| ENST00000680265.1:c.8383C>G | ENSP00000505384.1:p.Gln2795Glu | |
| ENST00000680710.1:c.8383C>G | ENSP00000506676.1:p.Gln2795Glu | |
| ENST00000294732.11:c.4066-4704C>G | ENSP00000294732.7:n.4066-4704C>G | |
| ENST00000367408.5:c.1816-4704C>G | ENSP00000356378.1:n.1816-4704C>G | |
| ENST00000367409.8:c.8383C>G | ENSP00000356379.4:p.Gln2795Glu | |
| ENST00000612785.1:c.2341C>G | ENSP00000479244.1:p.Gln781Glu | |
| NM_001206846.1:c.4066-4704C>G | NP_001193775.1:n.4066-4704C>G | |
| NM_018136.4:c.8383C>G | NP_060606.3:p.Gln2795Glu | |
| NM_018136.5:c.8383C>G MANE Select | NP_060606.3:p.Gln2795Glu | |
| NM_001206846.2:c.4066-4704C>G | NP_001193775.1:n.4066-4704C>G |