Linked Data
ClinVar Variation Id:
541248
ClinVar RCV Id:
RCV000651474
dbSNP Id:
rs202243691
ExAC:
16:14024649 G / A
gnomAD v2:
16-14024649-G-A
gnomAD v3:
16-13930792-G-A
gnomAD v4:
16-13930792-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13930792G>A , CM000678.2:g.13930792G>A | GRCh38 |
| NC_000016.9:g.14024649G>A , CM000678.1:g.14024649G>A | GRCh37 |
| NC_000016.8:g.13932150G>A | NCBI36 |
| NG_011442.1:g.15636G>A , LRG_463:g.15636G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682552.1:n.863G>A | ||
| ENST00000682568.1:n.953G>A | ||
| ENST00000682617.1:c.1013G>A | ENSP00000507912.1:p.Arg338Gln | |
| ENST00000682826.1:c.*189G>A | ENSP00000507274.1:n.*189G>A | |
| ENST00000682909.1:n.2915G>A | ||
| ENST00000683277.1:n.2520G>A | ||
| ENST00000683407.1:n.883G>A | ||
| ENST00000683962.1:c.*569G>A | ENSP00000506854.1:n.*569G>A | |
| ENST00000311895.8:c.875G>A MANE Select | ENSP00000310520.7:p.Arg292Gln | |
| ENST00000311895.7:c.875G>A | ENSP00000310520.7:p.Arg292Gln | |
| ENST00000574194.1:c.402G>A | ||
| ENST00000574781.1:n.552G>A | ||
| ENST00000575156.5:c.875G>A | ENSP00000459933.1:p.Arg292Gln | |
| NM_005236.2:c.875G>A , LRG_463t1:c.875G>A | NP_005227.1:p.Arg292Gln | |
| XM_011522424.1:c.1013G>A | XP_011520726.1:p.Arg338Gln | |
| XM_011522425.1:c.332G>A | XP_011520727.1:p.Arg111Gln | |
| XM_011522426.1:c.86G>A | XP_011520728.1:p.Arg29Gln | |
| XR_932805.1:n.1034G>A | ||
| XM_011522424.3:c.1013G>A | XP_011520726.1:p.Arg338Gln | |
| XM_017023043.2:c.86G>A | XP_016878532.1:p.Arg29Gln | |
| NM_005236.3:c.875G>A MANE Select | NP_005227.1:p.Arg292Gln |