Linked Data
ClinVar Variation Id:
501364
dbSNP Id:
rs764485729
ExAC:
20:10630210 G / A
gnomAD v2:
20-10630210-G-A
gnomAD v3:
20-10649562-G-A
gnomAD v4:
20-10649562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10649562G>A , CM000682.2:g.10649562G>A | GRCh38 |
| NC_000020.10:g.10630210G>A , CM000682.1:g.10630210G>A | GRCh37 |
| NC_000020.9:g.10578210G>A | NCBI36 |
| NG_007496.1:g.29485C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.1308C>T MANE Select | ENSP00000254958.4:p.Cys436= | |
| ENST00000617965.2:n.1897C>T | ||
| ENST00000254958.9:c.1308C>T | ENSP00000254958.4:p.Cys436= | |
| ENST00000423891.6:n.1174C>T | ||
| ENST00000620743.1:n.27C>T | ||
| ENST00000622545.1:c.85C>T | ||
| NM_000214.2:c.1308C>T | NP_000205.1:p.Cys436= | |
| NM_000214.3:c.1308C>T MANE Select | NP_000205.1:p.Cys436= |