Linked Data
ClinVar Variation Id:
823946
dbSNP Id:
rs113994089
gnomAD v3:
2-29220776-C-T
gnomAD v4:
2-29220776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220776C>T , CM000664.2:g.29220776C>T | GRCh38 |
| NC_000002.11:g.29443642C>T , CM000664.1:g.29443642C>T | GRCh37 |
| NC_000002.10:g.29297146C>T | NCBI36 |
| NG_009445.1:g.705791G>A , LRG_488:g.705791G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3575G>A MANE Select | ENSP00000373700.3:p.Arg1192Gln | |
| ENST00000431873.6:c.802G>A | ||
| ENST00000638605.1:n.452G>A | ||
| ENST00000642122.1:c.371G>A | ENSP00000493203.1:p.Arg124Gln | |
| ENST00000389048.7:c.3575G>A | ENSP00000373700.3:p.Arg1192Gln | |
| ENST00000431873.5:c.455G>A | ENSP00000414027.2:p.Arg152Gln | |
| ENST00000618119.4:c.2444G>A | ENSP00000482733.1:p.Arg815Gln | |
| NM_004304.4:c.3575G>A | NP_004295.2:p.Arg1192Gln | |
| NM_001353765.1:c.371G>A | NP_001340694.1:p.Arg124Gln | |
| XM_024452778.1:c.728G>A | XP_024308546.1:p.Arg243Gln | |
| XM_024452779.1:c.371G>A | XP_024308547.1:p.Arg124Gln | |
| NM_004304.5:c.3575G>A MANE Select | NP_004295.2:p.Arg1192Gln | |
| NM_001353765.2:c.371G>A | NP_001340694.1:p.Arg124Gln |