Linked Data
ClinVar Variation Id:
376510
ClinVar RCV Id:
RCV000423141
RCV000424045
RCV000426398
RCV000433839
RCV000434314
RCV000436216
RCV000444298
RCV000444322
RCV000473076
RCV000571019
dbSNP Id:
rs770025422
ExAC:
10:89717673 G / A
gnomAD v2:
10-89717673-G-A
gnomAD v4:
10-87957916-G-A
COSMIC:
COSM1297486
ERepo:
CA060404/MONDO:0017623/003
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957916G>A , CM000672.2:g.87957916G>A | GRCh38 |
| NC_000010.10:g.89717673G>A , CM000672.1:g.89717673G>A | GRCh37 |
| NC_000010.9:g.89707653G>A | NCBI36 |
| NG_007466.2:g.99478G>A , LRG_311:g.99478G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.698G>A | ENSP00000514759.2:p.Arg233Gln | |
| ENST00000710265.1:c.698G>A | ENSP00000518161.1:p.Arg233Gln | |
| ENST00000472832.3:c.698G>A | ENSP00000483066.2:p.Arg233Gln | |
| ENST00000688158.2:n.1433G>A | ||
| ENST00000688922.2:c.*528G>A | ENSP00000508742.2:n.*528G>A | |
| ENST00000700021.1:c.653G>A | ENSP00000514757.1:p.Arg218Gln | |
| ENST00000700022.1:c.*37G>A | ENSP00000514758.1:n.*37G>A | |
| ENST00000700023.1:n.1856G>A | ||
| ENST00000700024.1:n.2090G>A | ||
| ENST00000700025.1:n.1467G>A | ||
| ENST00000700026.1:n.335G>A | ||
| ENST00000700029.1:c.532G>A | ||
| ENST00000706954.1:c.698G>A | ENSP00000516674.1:p.Arg233Gln | |
| ENST00000706955.1:c.*733G>A | ENSP00000516675.1:n.*733G>A | |
| ENST00000686459.1:c.*284G>A | ENSP00000508909.1:n.*284G>A | |
| ENST00000688158.1:c.*809G>A | ENSP00000509254.1:n.*809G>A | |
| ENST00000688308.1:c.698G>A | ENSP00000508752.1:p.Arg233Gln | |
| ENST00000688922.1:c.619G>A | ||
| ENST00000693560.1:c.1217G>A | ENSP00000509861.1:p.Arg406Gln | |
| ENST00000371953.8:c.698G>A MANE Select | ENSP00000361021.3:p.Arg233Gln | |
| ENST00000371953.7:c.698G>A | ENSP00000361021.3:p.Arg233Gln | |
| ENST00000472832.2:c.125G>A | ENSP00000483066.1:p.Arg42Gln | |
| NM_000314.5:c.698G>A | NP_000305.3:p.Arg233Gln | |
| NM_000314.6:c.698G>A | NP_000305.3:p.Arg233Gln | |
| NM_001304717.2:c.1217G>A | NP_001291646.2:p.Arg406Gln | |
| NM_001304718.1:c.107G>A | NP_001291647.1:p.Arg36Gln | |
| XM_006717926.2:c.653G>A | XP_006717989.1:p.Arg218Gln | |
| XM_011539981.1:c.698G>A | XP_011538283.1:p.Arg233Gln | |
| XM_011539982.1:c.602G>A | XP_011538284.1:p.Arg201Gln | |
| XR_945791.1:n.1268G>A | ||
| NM_000314.7:c.698G>A | NP_000305.3:p.Arg233Gln | |
| NM_001304717.5:c.1217G>A | NP_001291646.4:p.Arg406Gln | |
| NM_001304718.2:c.107G>A | NP_001291647.1:p.Arg36Gln | |
| NM_000314.8:c.698G>A MANE Select | NP_000305.3:p.Arg233Gln |