Linked Data
MyVariant Identifiers:
chr21:g.43172119C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43172119C>G , CM000683.2:g.43172119C>G | GRCh38 |
| NG_009823.1:g.8089C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291554.6:c.361C>G MANE Select | ENSP00000291554.2:p.Pro121Ala | |
| ENST00000398132.1:c.250C>G | ENSP00000381200.1:p.Pro84Ala | |
| ENST00000398133.5:c.301C>G | ENSP00000381201.1:p.Pro101Ala | |
| ENST00000468016.1:n.462C>G | ||
| ENST00000482775.1:n.442C>G | ||
| NM_000394.3:c.361C>G | NP_000385.1:p.Pro121Ala | |
| XM_005261093.2:c.250C>G | XP_005261150.1:p.Pro84Ala | |
| NM_001363766.1:c.250C>G | NP_001350695.1:p.Pro84Ala | |
| NM_000394.4:c.361C>G MANE Select | NP_000385.1:p.Pro121Ala |