Linked Data
ClinVar Variation Id:
2717911
ClinVar RCV Id:
RCV003583438
MyVariant Identifiers:
chr11:g.118210512A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339797A>G , CM000673.2:g.118339797A>G | GRCh38 |
| NC_000011.9:g.118210512A>G , CM000673.1:g.118210512A>G | GRCh37 |
| NC_000011.8:g.117715722A>G | NCBI36 |
| NG_007566.1:g.454A>G , LRG_39:g.454A>G | |
| NG_009891.1:g.7948T>C , LRG_37:g.7948T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.871T>C | ||
| ENST00000695667.1:n.389T>C | ||
| ENST00000695668.1:n.2369T>C | ||
| ENST00000300692.9:c.384T>C MANE Select | ENSP00000300692.4:p.His128= | |
| ENST00000300692.8:c.384T>C | ENSP00000300692.4:p.His128= | |
| ENST00000392884.2:c.275-303T>C | ENSP00000376622.2:n.275-303T>C | |
| ENST00000526561.1:n.80-303T>C | ||
| ENST00000529594.5:c.165T>C | ENSP00000437335.1:p.His55= | |
| ENST00000534687.5:c.288-303T>C | ||
| NM_000732.4:c.384T>C , LRG_37t1:c.384T>C | NP_000723.1:p.His128= | |
| NM_001040651.1:c.275-303T>C | NP_001035741.1:n.275-303T>C | |
| NM_001040651.2:c.275-303T>C | NP_001035741.1:n.275-303T>C | |
| NM_000732.6:c.384T>C MANE Select | NP_000723.1:p.His128= |