Linked Data
ClinVar Variation Id:
302713
ClinVar RCV Id:
RCV000333716
dbSNP Id:
rs886047751
gnomAD v4:
11-119029575-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119029575C>A , CM000673.2:g.119029575C>A | GRCh38 |
| NC_000011.9:g.118900285C>A , CM000673.1:g.118900285C>A | GRCh37 |
| NC_000011.8:g.118405495C>A | NCBI36 |
| NG_013331.1:g.6332G>T , LRG_187:g.6332G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529510.6:n.35-11G>T | ||
| ENST00000697846.1:n.35-11G>T | ||
| ENST00000697847.1:n.35-11G>T | ||
| ENST00000697848.1:n.35-11G>T | ||
| ENST00000697849.1:n.268G>T | ||
| ENST00000697850.1:n.35-11G>T | ||
| ENST00000697851.1:n.268G>T | ||
| ENST00000638186.1:n.109-11G>T | ||
| ENST00000638360.1:n.43-11G>T | ||
| ENST00000638925.1:n.42-11G>T | ||
| ENST00000650539.1:n.211-11G>T | ||
| ENST00000330775.9:c.-195-11G>T | ENSP00000476242.2:n.-195-11G>T | |
| ENST00000357590.9:c.-195-11G>T | ENSP00000476176.2:n.-195-11G>T | |
| ENST00000525039.5:n.229-11G>T | ||
| ENST00000525102.5:n.563-11G>T | ||
| ENST00000525787.1:n.90G>T | ||
| ENST00000527992.5:n.33-11G>T | ||
| ENST00000530407.5:n.25-11G>T | ||
| ENST00000532085.1:n.1289G>T | ||
| ENST00000534384.1:n.26-11G>T | ||
| ENST00000538950.5:c.-344-11G>T | ENSP00000475991.2:n.-344-11G>T | |
| ENST00000545985.5:c.-195-11G>T | ENSP00000475241.2:n.-195-11G>T | |
| NM_001164277.1:c.-195-11G>T , LRG_187t1:c.-195-11G>T | NP_001157749.1:n.-195-11G>T | |
| NM_001164278.1:c.-195-11G>T | NP_001157750.1:n.-195-11G>T | |
| NM_001164279.1:c.-344-11G>T | NP_001157751.1:n.-344-11G>T | |
| NM_001467.5:c.-195-11G>T | NP_001458.1:n.-195-11G>T | |
| NM_001164278.2:c.-195-11G>T | NP_001157750.1:n.-195-11G>T | |
| NM_001164279.2:c.-344-11G>T | NP_001157751.1:n.-344-11G>T | |
| NM_001467.6:c.-195-11G>T | NP_001458.1:n.-195-11G>T | |
| NM_001164277.2:c.-195-11G>T MANE Select | NP_001157749.1:n.-195-11G>T |