Linked Data
ClinVar Variation Id:
714448
ClinVar RCV Id:
RCV000886753
dbSNP Id:
rs142327199
ExAC:
10:12001275 G / A
gnomAD v2:
10-12001275-G-A
gnomAD v3:
10-11959276-G-A
gnomAD v4:
10-11959276-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.11959276G>A , CM000672.2:g.11959276G>A | GRCh38 |
| NC_000010.10:g.12001275G>A , CM000672.1:g.12001275G>A | GRCh37 |
| NC_000010.9:g.12041281G>A | NCBI36 |
| NG_033936.1:g.88895C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357604.10:c.2265C>T MANE Select | ENSP00000350221.5:p.Cys755= | |
| ENST00000356352.6:c.2265C>T | ENSP00000348708.2:p.Cys755= | |
| ENST00000357604.9:c.2265C>T | ENSP00000350221.5:p.Cys755= | |
| ENST00000397053.6:c.2265C>T | ENSP00000380244.2:p.Cys755= | |
| NM_015542.3:c.2265C>T | NP_056357.1:p.Cys755= | |
| NM_080599.2:c.2265C>T | NP_542166.1:p.Cys755= | |
| XM_011519447.1:c.2289C>T | XP_011517749.1:p.Cys763= | |
| XM_011519448.1:c.2289C>T | XP_011517750.1:p.Cys763= | |
| XR_930489.1:n.2384C>T | ||
| XR_930489.3:n.2416C>T | ||
| NM_015542.4:c.2265C>T MANE Select | NP_056357.1:p.Cys755= | |
| NM_080599.3:c.2265C>T | NP_542166.1:p.Cys755= |