Linked Data
ClinVar Variation Id:
1200426
ClinVar RCV Id:
RCV001565452
gnomAD v3:
9-133352979-C-G
gnomAD v4:
9-133352979-C-G
MyVariant Identifiers:
chr9:g.133352979C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133352979C>G , CM000671.2:g.133352979C>G | GRCh38 |
| NC_000009.10:g.135209655C>G | NCBI36 |
| NG_008477.1:g.8528G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.516-213G>C MANE Select | ENSP00000361042.3:n.516-213G>C | |
| ENST00000371974.7:c.516-213G>C | ENSP00000361042.3:n.516-213G>C | |
| ENST00000437995.1:n.462-249G>C | ||
| ENST00000495952.5:n.506-213G>C | ||
| ENST00000615505.4:c.189-213G>C | ENSP00000482067.1:n.189-213G>C | |
| NM_001280787.1:c.189-213G>C | NP_001267716.1:n.189-213G>C | |
| NM_003172.3:c.516-213G>C | NP_003163.1:n.516-213G>C | |
| XM_011518942.1:c.189-213G>C | XP_011517244.1:n.189-213G>C | |
| NM_003172.4:c.516-213G>C MANE Select | NP_003163.1:n.516-213G>C |