Linked Data
ClinVar Variation Id:
138835
ClinVar RCV Id:
RCV000162364
RCV000759324
RCV000153792
RCV001358042
RCV000232250
RCV003149868
RCV003315855
dbSNP Id:
rs35979531
ExAC:
10:89725121 T / C
gnomAD v2:
10-89725121-T-C
gnomAD v3:
10-87965364-T-C
gnomAD v4:
10-87965364-T-C
ERepo:
CA000293/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965364T>C , CM000672.2:g.87965364T>C | GRCh38 |
| NC_000010.10:g.89725121T>C , CM000672.1:g.89725121T>C | GRCh37 |
| NC_000010.9:g.89715101T>C | NCBI36 |
| NG_007466.2:g.106926T>C , LRG_311:g.106926T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1197T>C | ENSP00000514759.2:p.Asp399= | |
| ENST00000710265.1:c.*133T>C | ENSP00000518161.1:n.*133T>C | |
| ENST00000688158.2:n.1839T>C | ||
| ENST00000688922.2:c.*934T>C | ENSP00000508742.2:n.*934T>C | |
| ENST00000700021.1:c.1059T>C | ENSP00000514757.1:p.Asp353= | |
| ENST00000700022.1:c.*443T>C | ENSP00000514758.1:n.*443T>C | |
| ENST00000700023.1:n.2262T>C | ||
| ENST00000700024.1:n.2496T>C | ||
| ENST00000706954.1:c.1104T>C | ENSP00000516674.1:p.Asp368= | |
| ENST00000706955.1:c.*1139T>C | ENSP00000516675.1:n.*1139T>C | |
| ENST00000686459.1:c.*690T>C | ENSP00000508909.1:n.*690T>C | |
| ENST00000688158.1:c.*1215T>C | ENSP00000509254.1:n.*1215T>C | |
| ENST00000688308.1:c.1104T>C | ENSP00000508752.1:p.Asp368= | |
| ENST00000688922.1:c.1025T>C | ||
| ENST00000693560.1:c.1623T>C | ENSP00000509861.1:p.Asp541= | |
| ENST00000371953.8:c.1104T>C MANE Select | ENSP00000361021.3:p.Asp368= | |
| ENST00000371953.7:c.1104T>C | ENSP00000361021.3:p.Asp368= | |
| NM_000314.5:c.1104T>C | NP_000305.3:p.Asp368= | |
| NM_000314.6:c.1104T>C | NP_000305.3:p.Asp368= | |
| NM_001304717.2:c.1623T>C | NP_001291646.2:p.Asp541= | |
| NM_001304718.1:c.513T>C | NP_001291647.1:p.Asp171= | |
| XM_006717926.2:c.1059T>C | XP_006717989.1:p.Asp353= | |
| XM_011539982.1:c.1008T>C | XP_011538284.1:p.Asp336= | |
| XR_945791.1:n.1674T>C | ||
| NM_000314.7:c.1104T>C | NP_000305.3:p.Asp368= | |
| NM_001304717.5:c.1623T>C | NP_001291646.4:p.Asp541= | |
| NM_001304718.2:c.513T>C | NP_001291647.1:p.Asp171= | |
| NM_000314.8:c.1104T>C MANE Select | NP_000305.3:p.Asp368= |