Linked Data
ClinVar Variation Id:
2242957
ClinVar RCV Id:
RCV002732636
dbSNP Id:
rs778152234
ExAC:
22:20779753 C / T
gnomAD v2:
22-20779753-C-T
gnomAD v3:
22-20425463-C-T
gnomAD v4:
22-20425463-C-T
MyVariant Identifiers:
chr22:g.20779753C>T (hg19)
chr22:g.20779753_20779754delinsTG (hg19)
chr22:g.20425463C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20425463C>T , CM000684.2:g.20425463C>T | GRCh38 |
| NC_000022.10:g.20779753C>T , CM000684.1:g.20779753C>T | GRCh37 |
| NC_000022.9:g.19109753C>T | NCBI36 |
| NG_031868.2:g.17397G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622235.5:c.2513G>A MANE Select | ENSP00000477564.2:p.Arg838Gln | |
| ENST00000615031.4:c.2525G>A | ENSP00000479389.1:p.Arg842Gln | |
| ENST00000622235.4:c.2513G>A | ENSP00000477564.1:p.Arg838Gln | |
| ENST00000623402.1:c.2528G>A | ENSP00000485276.1:p.Arg843Gln | |
| NM_153334.6:c.2528G>A | NP_699165.3:p.Arg843Gln | |
| NM_182895.4:c.2513G>A | NP_878315.2:p.Arg838Gln | |
| NM_153334.7:c.2528G>A | NP_699165.3:p.Arg843Gln | |
| NM_182895.5:c.2513G>A MANE Select | NP_878315.2:p.Arg838Gln |