Linked Data
ClinVar Variation Id:
285671
dbSNP Id:
rs189444981
ExAC:
21:47404303 C / T
gnomAD v2:
21-47404303-C-T
gnomAD v3:
21-45984389-C-T
gnomAD v4:
21-45984389-C-T
MyVariant Identifiers:
chr21:g.47404303C>T (hg19)
chr21:g.47404303_47404305delinsTGT (hg19)
chr21:g.45984389C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984389C>T , CM000683.2:g.45984389C>T | GRCh38 |
| NC_000021.8:g.47404303C>T , CM000683.1:g.47404303C>T | GRCh37 |
| NC_000021.7:g.46228731C>T | NCBI36 |
| NG_008674.1:g.7641C>T , LRG_475:g.7641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.348C>T MANE Select | ENSP00000355180.3:p.Ser116= | |
| ENST00000361866.7:c.348C>T | ENSP00000355180.3:p.Ser116= | |
| ENST00000612273.1:c.348C>T | ENSP00000483630.1:p.Ser116= | |
| NM_001848.2:c.348C>T , LRG_475t1:c.348C>T | NP_001839.2:p.Ser116= | |
| NM_001848.3:c.348C>T MANE Select | NP_001839.2:p.Ser116= |