Linked Data
ClinVar Variation Id:
427580
dbSNP Id:
rs1085308040
gnomAD v4:
10-87961096-G-A
PubMed:
PMID:28526761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87961096G>A , CM000672.2:g.87961096G>A | GRCh38 |
| NC_000010.10:g.89720853G>A , CM000672.1:g.89720853G>A | GRCh37 |
| NC_000010.9:g.89710833G>A | NCBI36 |
| NG_007466.2:g.102658G>A , LRG_311:g.102658G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.1097G>A | ENSP00000514759.2:p.Arg366Gln | |
| ENST00000710265.1:c.1004G>A | ENSP00000518161.1:p.Arg335Gln | |
| ENST00000472832.3:c.1004G>A | ENSP00000483066.2:p.Arg335Gln | |
| ENST00000688158.2:n.1739G>A | ||
| ENST00000688922.2:c.*834G>A | ENSP00000508742.2:n.*834G>A | |
| ENST00000700021.1:c.959G>A | ENSP00000514757.1:p.Arg320Gln | |
| ENST00000700022.1:c.*343G>A | ENSP00000514758.1:n.*343G>A | |
| ENST00000700023.1:n.2162G>A | ||
| ENST00000700024.1:n.2396G>A | ||
| ENST00000700025.1:n.1773G>A | ||
| ENST00000700026.1:n.641G>A | ||
| ENST00000706954.1:c.1004G>A | ENSP00000516674.1:p.Arg335Gln | |
| ENST00000706955.1:c.*1039G>A | ENSP00000516675.1:n.*1039G>A | |
| ENST00000686459.1:c.*590G>A | ENSP00000508909.1:n.*590G>A | |
| ENST00000688158.1:c.*1115G>A | ENSP00000509254.1:n.*1115G>A | |
| ENST00000688308.1:c.1004G>A | ENSP00000508752.1:p.Arg335Gln | |
| ENST00000688922.1:c.925G>A | ||
| ENST00000693560.1:c.1523G>A | ENSP00000509861.1:p.Arg508Gln | |
| ENST00000371953.8:c.1004G>A MANE Select | ENSP00000361021.3:p.Arg335Gln | |
| ENST00000371953.7:c.1004G>A | ENSP00000361021.3:p.Arg335Gln | |
| ENST00000472832.2:c.431G>A | ENSP00000483066.1:p.Arg144Gln | |
| NM_000314.5:c.1004G>A | NP_000305.3:p.Arg335Gln | |
| NM_000314.6:c.1004G>A | NP_000305.3:p.Arg335Gln | |
| NM_001304717.2:c.1523G>A | NP_001291646.2:p.Arg508Gln | |
| NM_001304718.1:c.413G>A | NP_001291647.1:p.Arg138Gln | |
| XM_006717926.2:c.959G>A | XP_006717989.1:p.Arg320Gln | |
| XM_011539981.1:c.1004G>A | XP_011538283.1:p.Arg335Gln | |
| XM_011539982.1:c.908G>A | XP_011538284.1:p.Arg303Gln | |
| XR_945791.1:n.1574G>A | ||
| NM_000314.7:c.1004G>A | NP_000305.3:p.Arg335Gln | |
| NM_001304717.5:c.1523G>A | NP_001291646.4:p.Arg508Gln | |
| NM_001304718.2:c.413G>A | NP_001291647.1:p.Arg138Gln | |
| NM_000314.8:c.1004G>A MANE Select | NP_000305.3:p.Arg335Gln |