Linked Data
ClinVar Variation Id:
302720
ClinVar RCV Id:
RCV000287287
dbSNP Id:
rs886047754
gnomAD v2:
11-118901416-G-A
gnomAD v3:
11-119030706-G-A
gnomAD v4:
11-119030706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119030706G>A , CM000673.2:g.119030706G>A | GRCh38 |
| NC_000011.9:g.118901416G>A , CM000673.1:g.118901416G>A | GRCh37 |
| NC_000011.8:g.118406626G>A | NCBI36 |
| NG_013331.1:g.5201C>T , LRG_187:g.5201C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.34+143C>T | ||
| ENST00000697846.1:n.34+143C>T | ||
| ENST00000697847.1:n.34+143C>T | ||
| ENST00000697848.1:n.34+143C>T | ||
| ENST00000697850.1:n.34+143C>T | ||
| ENST00000638360.1:n.42+143C>T | ||
| ENST00000638925.1:n.41+143C>T | ||
| ENST00000330775.9:c.-196+143C>T | ENSP00000476242.2:n.-196+143C>T | |
| ENST00000357590.9:c.-354C>T | ENSP00000476176.2:n.-354C>T | |
| ENST00000525039.5:n.70C>T | ||
| ENST00000525102.5:n.88C>T | ||
| ENST00000527992.5:n.32+143C>T | ||
| ENST00000530407.5:n.24+143C>T | ||
| ENST00000532085.1:n.158C>T | ||
| ENST00000538950.5:c.-345+143C>T | ENSP00000475991.2:n.-345+143C>T | |
| ENST00000545985.5:c.-670C>T | ENSP00000475241.2:n.-670C>T | |
| NM_001164277.1:c.-670C>T , LRG_187t1:c.-670C>T | NP_001157749.1:n.-670C>T | |
| NM_001164278.1:c.-354C>T | NP_001157750.1:n.-354C>T | |
| NM_001164279.1:c.-345+143C>T | NP_001157751.1:n.-345+143C>T | |
| NM_001467.5:c.-196+143C>T | NP_001458.1:n.-196+143C>T | |
| NM_001164278.2:c.-354C>T | NP_001157750.1:n.-354C>T | |
| NM_001164279.2:c.-345+143C>T | NP_001157751.1:n.-345+143C>T | |
| NM_001467.6:c.-196+143C>T | NP_001458.1:n.-196+143C>T | |
| NM_001164277.2:c.-670C>T MANE Select | NP_001157749.1:n.-670C>T |