Linked Data
ClinVar Variation Id:
1026716
ClinVar RCV Id:
RCV001327200
dbSNP Id:
rs934552351
gnomAD:
4:187130423 A / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186209269A>G , CM000666.2:g.186209269A>G | GRCh38 |
| NC_000004.11:g.187130423A>G , CM000666.1:g.187130423A>G | GRCh37 |
| NC_000004.10:g.187367417A>G | NCBI36 |
| NG_007965.1:g.22750A>G | |
| NG_012095.2:g.5291A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1402A>G MANE Select | ENSP00000368079.4:p.Ile468Val | |
| ENST00000378802.4:c.1402A>G | ENSP00000368079.4:p.Ile468Val | |
| ENST00000502665.1:n.637A>G | ||
| ENST00000507209.5:n.6100A>G | ||
| ENST00000511608.5:n.198A>G | ||
| ENST00000513354.5:n.492A>G | ||
| NM_207352.3:c.1402A>G | NP_997235.3:p.Ile468Val | |
| XM_005262935.2:c.1399A>G | XP_005262992.1:p.Ile467Val | |
| XM_006714184.2:c.1006A>G | XP_006714247.1:p.Ile336Val | |
| XM_005262935.4:c.1399A>G | XP_005262992.1:p.Ile467Val | |
| XM_017008037.1:c.1006A>G | XP_016863526.1:p.Ile336Val | |
| NM_207352.4:c.1402A>G MANE Select | NP_997235.3:p.Ile468Val |