Linked Data
ClinVar Variation Id:
142212
dbSNP Id:
rs375709098
ExAC:
10:89725078 C / T
gnomAD v2:
10-89725078-C-T
gnomAD v3:
10-87965321-C-T
gnomAD v4:
10-87965321-C-T
ERepo:
CA000277/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965321C>T , CM000672.2:g.87965321C>T | GRCh38 |
| NC_000010.10:g.89725078C>T , CM000672.1:g.89725078C>T | GRCh37 |
| NC_000010.9:g.89715058C>T | NCBI36 |
| NG_007466.2:g.106883C>T , LRG_311:g.106883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.1154C>T | ENSP00000514759.2:p.Pro385Leu | |
| ENST00000710265.1:c.*90C>T | ENSP00000518161.1:n.*90C>T | |
| ENST00000688158.2:n.1796C>T | ||
| ENST00000688922.2:c.*891C>T | ENSP00000508742.2:n.*891C>T | |
| ENST00000700021.1:c.1016C>T | ENSP00000514757.1:p.Pro339Leu | |
| ENST00000700022.1:c.*400C>T | ENSP00000514758.1:n.*400C>T | |
| ENST00000700023.1:n.2219C>T | ||
| ENST00000700024.1:n.2453C>T | ||
| ENST00000706954.1:c.1061C>T | ENSP00000516674.1:p.Pro354Leu | |
| ENST00000706955.1:c.*1096C>T | ENSP00000516675.1:n.*1096C>T | |
| ENST00000686459.1:c.*647C>T | ENSP00000508909.1:n.*647C>T | |
| ENST00000688158.1:c.*1172C>T | ENSP00000509254.1:n.*1172C>T | |
| ENST00000688308.1:c.1061C>T | ENSP00000508752.1:p.Pro354Leu | |
| ENST00000688922.1:c.982C>T | ||
| ENST00000693560.1:c.1580C>T | ENSP00000509861.1:p.Pro527Leu | |
| ENST00000371953.8:c.1061C>T MANE Select | ENSP00000361021.3:p.Pro354Leu | |
| ENST00000371953.7:c.1061C>T | ENSP00000361021.3:p.Pro354Leu | |
| NM_000314.5:c.1061C>T | NP_000305.3:p.Pro354Leu | |
| NM_000314.6:c.1061C>T | NP_000305.3:p.Pro354Leu | |
| NM_001304717.2:c.1580C>T | NP_001291646.2:p.Pro527Leu | |
| NM_001304718.1:c.470C>T | NP_001291647.1:p.Pro157Leu | |
| XM_006717926.2:c.1016C>T | XP_006717989.1:p.Pro339Leu | |
| XM_011539982.1:c.965C>T | XP_011538284.1:p.Pro322Leu | |
| XR_945791.1:n.1631C>T | ||
| NM_000314.7:c.1061C>T | NP_000305.3:p.Pro354Leu | |
| NM_001304717.5:c.1580C>T | NP_001291646.4:p.Pro527Leu | |
| NM_001304718.2:c.470C>T | NP_001291647.1:p.Pro157Leu | |
| NM_000314.8:c.1061C>T MANE Select | NP_000305.3:p.Pro354Leu |