Linked Data
ClinVar Variation Id:
499092
dbSNP Id:
rs374795477
ExAC:
21:47545946 C / T
gnomAD v2:
21-47545946-C-T
gnomAD v3:
21-46126032-C-T
gnomAD v4:
21-46126032-C-T
MyVariant Identifiers:
chr21:g.47545946C>T (hg19)
chr21:g.47545946_47545949delinsTGAT (hg19)
chr21:g.46126032C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46126032C>T , CM000683.2:g.46126032C>T | GRCh38 |
| NC_000021.8:g.47545946C>T , CM000683.1:g.47545946C>T | GRCh37 |
| NC_000021.7:g.46370374C>T | NCBI36 |
| NG_008675.1:g.32914C>T , LRG_476:g.32914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397763.6:c.2217C>T MANE Plus Clinical | ENSP00000380870.1:p.Asp739= | |
| ENST00000300527.9:c.2217C>T MANE Select | ENSP00000300527.4:p.Asp739= | |
| ENST00000409416.6:c.2217C>T | ENSP00000387115.1:p.Asp739= | |
| ENST00000300527.8:c.2217C>T | ENSP00000300527.4:p.Asp739= | |
| ENST00000310645.9:c.2217C>T | ENSP00000312529.5:p.Asp739= | |
| ENST00000397763.5:c.2217C>T | ENSP00000380870.1:p.Asp739= | |
| ENST00000409416.5:c.2217C>T | ENSP00000387115.1:p.Asp739= | |
| NM_001849.3:c.2217C>T , LRG_476t1:c.2217C>T | NP_001840.3:p.Asp739= | |
| NM_058174.2:c.2217C>T | NP_478054.2:p.Asp739= | |
| NM_058175.2:c.2217C>T | NP_478055.2:p.Asp739= | |
| XM_011529451.1:c.2217C>T | XP_011527753.1:p.Asp739= | |
| XM_011529452.1:c.2217C>T | XP_011527754.1:p.Asp739= | |
| XR_937438.1:n.2294C>T | ||
| XR_937439.1:n.2294C>T | ||
| XR_937438.2:n.2301C>T | ||
| XR_937439.2:n.2301C>T | ||
| NM_001849.4:c.2217C>T MANE Select | NP_001840.3:p.Asp739= | |
| NM_058174.3:c.2217C>T MANE Plus Clinical | NP_478054.2:p.Asp739= | |
| NM_058175.3:c.2217C>T | NP_478055.2:p.Asp739= |