Linked Data
MyVariant Identifiers:
chr21:g.43172114G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172114G>T , CM000683.2:g.43172114G>T | GRCh38 |
| NG_009823.1:g.8084G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.356G>T MANE Select | ENSP00000291554.2:p.Arg119Leu | |
| ENST00000398132.1:c.245G>T | ENSP00000381200.1:p.Arg82Leu | |
| ENST00000398133.5:c.296G>T | ENSP00000381201.1:p.Arg99Leu | |
| ENST00000468016.1:n.457G>T | ||
| ENST00000482775.1:n.437G>T | ||
| NM_000394.3:c.356G>T | NP_000385.1:p.Arg119Leu | |
| XM_005261093.2:c.245G>T | XP_005261150.1:p.Arg82Leu | |
| NM_001363766.1:c.245G>T | NP_001350695.1:p.Arg82Leu | |
| NM_000394.4:c.356G>T MANE Select | NP_000385.1:p.Arg119Leu |