Linked Data
ClinVar Variation Id:
143020
ClinVar RCV Id:
RCV000132539
RCV000201314
RCV000205690
RCV000409006
RCV000513025
RCV002492515
RCV001357175
RCV003492631
RCV004528864
dbSNP Id:
rs375709098
ExAC:
10:89725078 C / A
gnomAD v2:
10-89725078-C-A
gnomAD v3:
10-87965321-C-A
gnomAD v4:
10-87965321-C-A
ERepo:
CA000275/MONDO:0017623/003
PubMed:
PMID:11238682
PMID:12844284
PMID:15805158
PMID:17286265
PMID:17392703
PMID:17427195
PMID:19265751
PMID:19668082
PMID:21194675
PMID:21343951
PMID:21659347
PMID:21869887
PMID:22252256
PMID:23695273
PMID:24136893
PMID:25022750
PMID:25132236
PMID:25669429
PMID:25980754
PMID:26124082
PMID:26580448
PMID:26898890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965321C>A , CM000672.2:g.87965321C>A | GRCh38 |
| NC_000010.10:g.89725078C>A , CM000672.1:g.89725078C>A | GRCh37 |
| NC_000010.9:g.89715058C>A | NCBI36 |
| NG_007466.2:g.106883C>A , LRG_311:g.106883C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1154C>A | ENSP00000514759.2:p.Pro385Gln | |
| ENST00000710265.1:c.*90C>A | ENSP00000518161.1:n.*90C>A | |
| ENST00000688158.2:n.1796C>A | ||
| ENST00000688922.2:c.*891C>A | ENSP00000508742.2:n.*891C>A | |
| ENST00000700021.1:c.1016C>A | ENSP00000514757.1:p.Pro339Gln | |
| ENST00000700022.1:c.*400C>A | ENSP00000514758.1:n.*400C>A | |
| ENST00000700023.1:n.2219C>A | ||
| ENST00000700024.1:n.2453C>A | ||
| ENST00000706954.1:c.1061C>A | ENSP00000516674.1:p.Pro354Gln | |
| ENST00000706955.1:c.*1096C>A | ENSP00000516675.1:n.*1096C>A | |
| ENST00000686459.1:c.*647C>A | ENSP00000508909.1:n.*647C>A | |
| ENST00000688158.1:c.*1172C>A | ENSP00000509254.1:n.*1172C>A | |
| ENST00000688308.1:c.1061C>A | ENSP00000508752.1:p.Pro354Gln | |
| ENST00000688922.1:c.982C>A | ||
| ENST00000693560.1:c.1580C>A | ENSP00000509861.1:p.Pro527Gln | |
| ENST00000371953.8:c.1061C>A MANE Select | ENSP00000361021.3:p.Pro354Gln | |
| ENST00000371953.7:c.1061C>A | ENSP00000361021.3:p.Pro354Gln | |
| NM_000314.5:c.1061C>A | NP_000305.3:p.Pro354Gln | |
| NM_000314.6:c.1061C>A | NP_000305.3:p.Pro354Gln | |
| NM_001304717.2:c.1580C>A | NP_001291646.2:p.Pro527Gln | |
| NM_001304718.1:c.470C>A | NP_001291647.1:p.Pro157Gln | |
| XM_006717926.2:c.1016C>A | XP_006717989.1:p.Pro339Gln | |
| XM_011539982.1:c.965C>A | XP_011538284.1:p.Pro322Gln | |
| XR_945791.1:n.1631C>A | ||
| NM_000314.7:c.1061C>A | NP_000305.3:p.Pro354Gln | |
| NM_001304717.5:c.1580C>A | NP_001291646.4:p.Pro527Gln | |
| NM_001304718.2:c.470C>A | NP_001291647.1:p.Pro157Gln | |
| NM_000314.8:c.1061C>A MANE Select | NP_000305.3:p.Pro354Gln |