Linked Data
dbSNP Id:
rs1985735707
gnomAD v4:
21-43169256-T-C
MyVariant Identifiers:
chr21:g.43169256T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43169256T>C , CM000683.2:g.43169256T>C | GRCh38 |
| NG_009823.1:g.5226T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.157T>C MANE Select | ENSP00000291554.2:p.Phe53Leu | |
| ENST00000482775.1:n.170T>C | ||
| NM_000394.3:c.157T>C | NP_000385.1:p.Phe53Leu | |
| XR_001755073.1:n.647+1781A>G | ||
| NM_000394.4:c.157T>C MANE Select | NP_000385.1:p.Phe53Leu |