Linked Data
ClinVar Variation Id:
1353547
dbSNP Id:
rs375516507
gnomAD v4:
21-43416851-C-A
MyVariant Identifiers:
chr21:g.43416851C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43416851C>A , CM000683.2:g.43416851C>A | GRCh38 |
| NG_052009.1:g.15282G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2243G>T MANE Select | ENSP00000270162.6:p.Arg748Leu | |
| ENST00000270162.6:c.2243G>T | ENSP00000270162.6:p.Arg748Leu | |
| NM_173354.3:c.2243G>T | NP_775490.2:p.Arg748Leu | |
| XM_011529474.1:c.2096G>T | XP_011527776.1:p.Arg699Leu | |
| NM_173354.4:c.2243G>T | NP_775490.2:p.Arg748Leu | |
| XM_011529474.2:c.2096G>T | XP_011527776.1:p.Arg699Leu | |
| NM_173354.5:c.2243G>T MANE Select | NP_775490.2:p.Arg748Leu |