Linked Data
ClinVar Variation Id:
742068
ClinVar RCV Id:
RCV000918289
dbSNP Id:
rs188697778
ExAC:
11:118210626 G / A
gnomAD v2:
11-118210626-G-A
gnomAD v3:
11-118339911-G-A
gnomAD v4:
11-118339911-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339911G>A , CM000673.2:g.118339911G>A | GRCh38 |
| NC_000011.9:g.118210626G>A , CM000673.1:g.118210626G>A | GRCh37 |
| NC_000011.8:g.117715836G>A | NCBI36 |
| NG_007566.1:g.568G>A , LRG_39:g.568G>A | |
| NG_009891.1:g.7834C>T , LRG_37:g.7834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.757C>T | ||
| ENST00000695667.1:n.280-5C>T | ||
| ENST00000695668.1:n.2260-5C>T | ||
| ENST00000300692.9:c.275-5C>T MANE Select | ENSP00000300692.4:n.275-5C>T | |
| ENST00000300692.8:c.275-5C>T | ENSP00000300692.4:n.275-5C>T | |
| ENST00000392884.2:c.275-417C>T | ENSP00000376622.2:n.275-417C>T | |
| ENST00000526561.1:n.80-417C>T | ||
| ENST00000529594.5:c.56-5C>T | ENSP00000437335.1:n.56-5C>T | |
| ENST00000534687.5:c.288-417C>T | ||
| NM_000732.4:c.275-5C>T , LRG_37t1:c.275-5C>T | NP_000723.1:n.275-5C>T | |
| NM_001040651.1:c.275-417C>T | NP_001035741.1:n.275-417C>T | |
| NM_001040651.2:c.275-417C>T | NP_001035741.1:n.275-417C>T | |
| NM_000732.6:c.275-5C>T MANE Select | NP_000723.1:n.275-5C>T |