Linked Data
ClinVar Variation Id:
134137
ClinVar RCV Id:
RCV000120810
RCV000535348
RCV002257428
RCV002470769
RCV002515858
RCV003153389
RCV003315749
dbSNP Id:
rs374186605
ExAC:
16:14041998 C / G
gnomAD v2:
16-14041998-C-G
gnomAD v3:
16-13948141-C-G
gnomAD v4:
16-13948141-C-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948141C>G , CM000678.2:g.13948141C>G | GRCh38 |
| NC_000016.9:g.14041998C>G , CM000678.1:g.14041998C>G | GRCh37 |
| NC_000016.8:g.13949499C>G | NCBI36 |
| NG_011442.1:g.32985C>G , LRG_463:g.32985C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2683C>G | ENSP00000507912.1:p.Gln895Glu | |
| ENST00000683962.1:c.*2239C>G | ENSP00000506854.1:n.*2239C>G | |
| ENST00000311895.8:c.2545C>G MANE Select | ENSP00000310520.7:p.Gln849Glu | |
| ENST00000311895.7:c.2545C>G | ENSP00000310520.7:p.Gln849Glu | |
| ENST00000389138.7:n.1822C>G | ||
| NM_005236.2:c.2545C>G , LRG_463t1:c.2545C>G | NP_005227.1:p.Gln849Glu | |
| XM_011522424.1:c.2683C>G | XP_011520726.1:p.Gln895Glu | |
| XM_011522425.1:c.2002C>G | XP_011520727.1:p.Gln668Glu | |
| XM_011522426.1:c.1756C>G | XP_011520728.1:p.Gln586Glu | |
| XM_011522427.1:c.1195C>G | XP_011520729.1:p.Gln399Glu | |
| XR_932805.1:n.2704C>G | ||
| XM_011522424.3:c.2683C>G | XP_011520726.1:p.Gln895Glu | |
| XM_017023043.2:c.1756C>G | XP_016878532.1:p.Gln586Glu | |
| NM_005236.3:c.2545C>G MANE Select | NP_005227.1:p.Gln849Glu |