Linked Data
ClinVar Variation Id:
92827
dbSNP Id:
rs190707033
ExAC:
10:89624340 C / T
gnomAD v2:
10-89624340-C-T
gnomAD v3:
10-87864583-C-T
gnomAD v4:
10-87864583-C-T
ERepo:
CA000576/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87864583C>T , CM000672.2:g.87864583C>T | GRCh38 |
| NC_000010.10:g.89624340C>T , CM000672.1:g.89624340C>T | GRCh37 |
| NC_000010.9:g.89614320C>T | NCBI36 |
| NG_007466.2:g.6145C>T , LRG_311:g.6145C>T | |
| NG_033079.1:g.3855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.79+35C>T | ENSP00000514759.2:n.79+35C>T | |
| ENST00000710265.1:c.79+35C>T | ENSP00000518161.1:n.79+35C>T | |
| ENST00000472832.3:c.79+35C>T | ENSP00000483066.2:n.79+35C>T | |
| ENST00000688922.2:c.79+35C>T | ENSP00000508742.2:n.79+35C>T | |
| ENST00000700021.1:c.79+35C>T | ENSP00000514757.1:n.79+35C>T | |
| ENST00000700022.1:c.79+35C>T | ENSP00000514758.1:n.79+35C>T | |
| ENST00000706954.1:c.79+35C>T | ENSP00000516674.1:n.79+35C>T | |
| ENST00000706955.1:c.79+35C>T | ENSP00000516675.1:n.79+35C>T | |
| ENST00000686459.1:c.79+35C>T | ENSP00000508909.1:n.79+35C>T | |
| ENST00000688158.1:c.79+35C>T | ENSP00000509254.1:n.79+35C>T | |
| ENST00000688308.1:c.79+35C>T | ENSP00000508752.1:n.79+35C>T | |
| ENST00000693560.1:c.598+35C>T | ENSP00000509861.1:n.598+35C>T | |
| ENST00000371953.8:c.79+35C>T MANE Select | ENSP00000361021.3:n.79+35C>T | |
| ENST00000371953.7:c.79+35C>T | ENSP00000361021.3:n.79+35C>T | |
| ENST00000462694.1:n.81+35C>T | ||
| ENST00000487939.1:n.100+35C>T | ||
| ENST00000610634.1:c.-24+35C>T | ENSP00000477517.1:n.-24+35C>T | |
| ENST00000618586.1:n.83C>T | ||
| NM_000314.5:c.79+35C>T | NP_000305.3:n.79+35C>T | |
| NM_000314.6:c.79+35C>T | NP_000305.3:n.79+35C>T | |
| NM_001304717.2:c.598+35C>T | NP_001291646.2:n.598+35C>T | |
| NM_001304718.1:c.-627+35C>T | NP_001291647.1:n.-627+35C>T | |
| XM_006717926.2:c.79+35C>T | XP_006717989.1:n.79+35C>T | |
| XM_011539981.1:c.79+35C>T | XP_011538283.1:n.79+35C>T | |
| XR_945789.1:n.791+35C>T | ||
| XR_945790.1:n.791+35C>T | ||
| XR_945791.1:n.791+35C>T | ||
| NM_000314.7:c.79+35C>T | NP_000305.3:n.79+35C>T | |
| NM_001304717.5:c.598+35C>T | NP_001291646.4:n.598+35C>T | |
| NM_001304718.2:c.-627+35C>T | NP_001291647.1:n.-627+35C>T | |
| NM_000314.8:c.79+35C>T MANE Select | NP_000305.3:n.79+35C>T |