Linked Data
ClinVar Variation Id:
743930
dbSNP Id:
rs199872172
gnomAD v4:
21-43416868-G-C
MyVariant Identifiers:
chr21:g.43416868G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43416868G>C , CM000683.2:g.43416868G>C | GRCh38 |
| NG_052009.1:g.15265C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2226C>G MANE Select | ENSP00000270162.6:p.Pro742= | |
| ENST00000270162.6:c.2226C>G | ENSP00000270162.6:p.Pro742= | |
| NM_173354.3:c.2226C>G | NP_775490.2:p.Pro742= | |
| XM_011529474.1:c.2079C>G | XP_011527776.1:p.Pro693= | |
| NM_173354.4:c.2226C>G | NP_775490.2:p.Pro742= | |
| XM_011529474.2:c.2079C>G | XP_011527776.1:p.Pro693= | |
| NM_173354.5:c.2226C>G MANE Select | NP_775490.2:p.Pro742= |