ClinGen Classification:
Classification
Likely Benign
ClinVar RCV:
ClinVar Variation:
dbSNP:
MyVariant.info:
GRCh37
chr21:g.36231826G>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34859529G>C , CM000683.2:g.34859529G>C | GRCh38 |
| NC_000021.8:g.36231826G>C , CM000683.1:g.36231826G>C | GRCh37 |
| NC_000021.7:g.35153696G>C | NCBI36 |
| NG_011402.2:g.1130183C>G , LRG_482:g.1130183C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675419.1:c.558C>G MANE Select | ENSP00000501943.1:p.Val186= | |
| ENST00000300305.7:c.558C>G | ENSP00000300305.3:p.Val186= | |
| ENST00000344691.8:c.477C>G | ENSP00000340690.4:p.Val159= | |
| ENST00000358356.9:c.477C>G | ENSP00000351123.5:p.Val159= | |
| ENST00000399237.6:c.522C>G | ENSP00000382182.2:p.Val174= | |
| ENST00000399240.5:c.477C>G | ENSP00000382184.1:p.Val159= | |
| ENST00000437180.5:c.558C>G | ENSP00000409227.1:p.Val186= | |
| ENST00000467577.1:n.50C>G | ||
| ENST00000482318.5:c.*148C>G | ENSP00000477067.1:n.*148C>G | |
| NM_001001890.2:c.477C>G | NP_001001890.1:p.Val159= | |
| NM_001122607.1:c.477C>G | NP_001116079.1:p.Val159= | |
| NM_001754.4:c.558C>G , LRG_482t1:c.558C>G | NP_001745.2:p.Val186= | |
| XM_005261068.3:c.522C>G | XP_005261125.1:p.Val174= | |
| XM_005261069.3:c.558C>G | XP_005261126.1:p.Val186= | |
| XM_011529766.1:c.558C>G | XP_011528068.1:p.Val186= | |
| XM_011529767.1:c.519C>G | XP_011528069.1:p.Val173= | |
| XM_011529768.1:c.519C>G | XP_011528070.1:p.Val173= | |
| XM_011529770.1:c.558C>G | XP_011528072.1:p.Val186= | |
| XR_937576.1:n.737C>G | ||
| XM_005261069.4:c.558C>G | XP_005261126.1:p.Val186= | |
| XM_011529766.2:c.558C>G | XP_011528068.1:p.Val186= | |
| XM_011529767.2:c.519C>G | XP_011528069.1:p.Val173= | |
| XM_011529768.2:c.519C>G | XP_011528070.1:p.Val173= | |
| XM_011529770.2:c.558C>G | XP_011528072.1:p.Val186= | |
| XM_017028487.1:c.405C>G | XP_016883976.1:p.Val135= | |
| XR_937576.2:n.784C>G | ||
| NM_001001890.3:c.477C>G | NP_001001890.1:p.Val159= | |
| NM_001122607.2:c.477C>G | NP_001116079.1:p.Val159= | |
| NM_001754.5:c.558C>G MANE Select | NP_001745.2:p.Val186= |