Linked Data
ClinVar Variation Id:
324172
dbSNP Id:
rs372127517
gnomAD v2:
17-56296655-A-G
gnomAD v3:
17-58219294-A-G
gnomAD v4:
17-58219294-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58219294A>G , CM000679.2:g.58219294A>G | GRCh38 |
| NC_000017.10:g.56296655A>G , CM000679.1:g.56296655A>G | GRCh37 |
| NC_000017.9:g.53651654A>G | NCBI36 |
| NG_013032.1:g.5312T>C , LRG_687:g.5312T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537529.7:c.-350+168T>C (MKS1) | ENSP00000442096.3:n.-350+168T>C | |
| ENST00000393119.6:c.-64T>C (MKS1) | ENSP00000376827.2:n.-64T>C | |
| ENST00000537529.6:c.50+168T>C (MKS1) | ENSP00000442096.2:n.50+168T>C | |
| ENST00000580127.5:c.-64T>C (MKS1) | ENSP00000462423.1:n.-64T>C | |
| ENST00000582328.5:c.-289+477A>G (LPO) | ENSP00000464636.1:n.-289+477A>G | |
| NM_001165927.1:c.50+168T>C , LRG_687t2:c.50+168T>C (MKS1) | NP_001159399.1:n.50+168T>C | |
| NM_017777.3:c.-64T>C , LRG_687t1:c.-64T>C (MKS1) | NP_060247.2:n.-64T>C | |
| NM_001321268.1:c.-575T>C (MKS1) | NP_001308197.1:n.-575T>C | |
| NM_001321269.1:c.-64T>C (MKS1) | NP_001308198.1:n.-64T>C | |
| NM_001330397.1:c.-64T>C (MKS1) | NP_001317326.1:n.-64T>C |