Linked Data
ClinVar Variation Id:
2145331
ClinVar RCV Id:
RCV003064971
dbSNP Id:
rs1569518214
gnomAD v2:
21-47410352-T-G
gnomAD v3:
21-45990438-T-G
gnomAD v4:
21-45990438-T-G
MyVariant Identifiers:
chr21:g.47410352T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990438T>G , CM000683.2:g.45990438T>G | GRCh38 |
| NC_000021.8:g.47410352T>G , CM000683.1:g.47410352T>G | GRCh37 |
| NC_000021.7:g.46234780T>G | NCBI36 |
| NG_008674.1:g.13690T>G , LRG_475:g.13690T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+16T>G MANE Select | ENSP00000355180.3:n.1002+16T>G | |
| ENST00000361866.7:c.1002+16T>G | ENSP00000355180.3:n.1002+16T>G | |
| ENST00000612273.1:c.1002+16T>G | ENSP00000483630.1:n.1002+16T>G | |
| NM_001848.2:c.1002+16T>G , LRG_475t1:c.1002+16T>G | NP_001839.2:n.1002+16T>G | |
| NM_001848.3:c.1002+16T>G MANE Select | NP_001839.2:n.1002+16T>G |