Linked Data
ClinVar Variation Id:
2772015
ClinVar RCV Id:
RCV003584010
MyVariant Identifiers:
chr11:g.118210550G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339835G>A , CM000673.2:g.118339835G>A | GRCh38 |
| NC_000011.9:g.118210550G>A , CM000673.1:g.118210550G>A | GRCh37 |
| NC_000011.8:g.117715760G>A | NCBI36 |
| NG_007566.1:g.492G>A , LRG_39:g.492G>A | |
| NG_009891.1:g.7910C>T , LRG_37:g.7910C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.833C>T | ||
| ENST00000695667.1:n.351C>T | ||
| ENST00000695668.1:n.2331C>T | ||
| ENST00000300692.9:c.346C>T MANE Select | ENSP00000300692.4:p.Leu116= | |
| ENST00000300692.8:c.346C>T | ENSP00000300692.4:p.Leu116= | |
| ENST00000392884.2:c.275-341C>T | ENSP00000376622.2:n.275-341C>T | |
| ENST00000526561.1:n.80-341C>T | ||
| ENST00000529594.5:c.127C>T | ENSP00000437335.1:p.Leu43= | |
| ENST00000534687.5:c.288-341C>T | ||
| NM_000732.4:c.346C>T , LRG_37t1:c.346C>T | NP_000723.1:p.Leu116= | |
| NM_001040651.1:c.275-341C>T | NP_001035741.1:n.275-341C>T | |
| NM_001040651.2:c.275-341C>T | NP_001035741.1:n.275-341C>T | |
| NM_000732.6:c.346C>T MANE Select | NP_000723.1:p.Leu116= |