Linked Data
ClinVar Variation Id:
668423
dbSNP Id:
rs766426780
ExAC:
20:10639237 G / A
gnomAD v2:
20-10639237-G-A
gnomAD v3:
20-10658589-G-A
gnomAD v4:
20-10658589-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658589G>A , CM000682.2:g.10658589G>A | GRCh38 |
| NC_000020.10:g.10639237G>A , CM000682.1:g.10639237G>A | GRCh37 |
| NC_000020.9:g.10587237G>A | NCBI36 |
| NG_007496.1:g.20458C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.573C>T MANE Select | ENSP00000254958.4:p.Tyr191= | |
| ENST00000254958.9:c.573C>T | ENSP00000254958.4:p.Tyr191= | |
| ENST00000423891.6:n.439C>T | ||
| NM_000214.2:c.573C>T | NP_000205.1:p.Tyr191= | |
| NM_000214.3:c.573C>T MANE Select | NP_000205.1:p.Tyr191= |