Linked Data
ClinVar Variation Id:
1417780
dbSNP Id:
rs774372899
ExAC:
20:10624470 C / T
gnomAD v2:
20-10624470-C-T
gnomAD v4:
20-10643822-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10643822C>T , CM000682.2:g.10643822C>T | GRCh38 |
| NC_000020.10:g.10624470C>T , CM000682.1:g.10624470C>T | GRCh37 |
| NC_000020.9:g.10572470C>T | NCBI36 |
| NG_007496.1:g.35225G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2414G>A MANE Select | ENSP00000254958.4:p.Arg805Gln | |
| ENST00000617965.2:n.3003G>A | ||
| ENST00000254958.9:c.2414G>A | ENSP00000254958.4:p.Arg805Gln | |
| ENST00000423891.6:n.2280G>A | ||
| NM_000214.2:c.2414G>A | NP_000205.1:p.Arg805Gln | |
| NM_000214.3:c.2414G>A MANE Select | NP_000205.1:p.Arg805Gln |