Linked Data
ClinVar Variation Id:
1484498
ClinVar RCV Id:
RCV002005843
dbSNP Id:
rs2141619663
gnomAD v4:
16-13947622-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947622G>C , CM000678.2:g.13947622G>C | GRCh38 |
| NC_000016.9:g.14041479G>C , CM000678.1:g.14041479G>C | GRCh37 |
| NC_000016.8:g.13948980G>C | NCBI36 |
| NG_011442.1:g.32466G>C , LRG_463:g.32466G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2164G>C | ENSP00000507912.1:p.Glu722Gln | |
| ENST00000683962.1:c.*1720G>C | ENSP00000506854.1:n.*1720G>C | |
| ENST00000311895.8:c.2026G>C MANE Select | ENSP00000310520.7:p.Glu676Gln | |
| ENST00000311895.7:c.2026G>C | ENSP00000310520.7:p.Glu676Gln | |
| ENST00000389138.7:n.1303G>C | ||
| ENST00000462862.1:c.339G>C | ENSP00000461322.1:n.339G>C | |
| NM_005236.2:c.2026G>C , LRG_463t1:c.2026G>C | NP_005227.1:p.Glu676Gln | |
| XM_011522424.1:c.2164G>C | XP_011520726.1:p.Glu722Gln | |
| XM_011522425.1:c.1483G>C | XP_011520727.1:p.Glu495Gln | |
| XM_011522426.1:c.1237G>C | XP_011520728.1:p.Glu413Gln | |
| XM_011522427.1:c.676G>C | XP_011520729.1:p.Glu226Gln | |
| XR_932805.1:n.2185G>C | ||
| XM_011522424.3:c.2164G>C | XP_011520726.1:p.Glu722Gln | |
| XM_017023043.2:c.1237G>C | XP_016878532.1:p.Glu413Gln | |
| NM_005236.3:c.2026G>C MANE Select | NP_005227.1:p.Glu676Gln |