Linked Data
ClinVar Variation Id:
2960196
ClinVar RCV Id:
RCV003814956
dbSNP Id:
rs1460223429
gnomAD v2:
11-118210545-G-A
gnomAD v3:
11-118339830-G-A
gnomAD v4:
11-118339830-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339830G>A , CM000673.2:g.118339830G>A | GRCh38 |
| NC_000011.9:g.118210545G>A , CM000673.1:g.118210545G>A | GRCh37 |
| NC_000011.8:g.117715755G>A | NCBI36 |
| NG_007566.1:g.487G>A , LRG_39:g.487G>A | |
| NG_009891.1:g.7915C>T , LRG_37:g.7915C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.838C>T | ||
| ENST00000695667.1:n.356C>T | ||
| ENST00000695668.1:n.2336C>T | ||
| ENST00000300692.9:c.351C>T MANE Select | ENSP00000300692.4:p.Leu117= | |
| ENST00000300692.8:c.351C>T | ENSP00000300692.4:p.Leu117= | |
| ENST00000392884.2:c.275-336C>T | ENSP00000376622.2:n.275-336C>T | |
| ENST00000526561.1:n.80-336C>T | ||
| ENST00000529594.5:c.132C>T | ENSP00000437335.1:p.Leu44= | |
| ENST00000534687.5:c.288-336C>T | ||
| NM_000732.4:c.351C>T , LRG_37t1:c.351C>T | NP_000723.1:p.Leu117= | |
| NM_001040651.1:c.275-336C>T | NP_001035741.1:n.275-336C>T | |
| NM_001040651.2:c.275-336C>T | NP_001035741.1:n.275-336C>T | |
| NM_000732.6:c.351C>T MANE Select | NP_000723.1:p.Leu117= |