Linked Data
ClinVar Variation Id:
1077711
dbSNP Id:
rs1250236920
MyVariant Identifiers:
chr21:g.43416955G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43416955G>A , CM000683.2:g.43416955G>A | GRCh38 |
| NG_052009.1:g.15178C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2139C>T MANE Select | ENSP00000270162.6:p.Leu713= | |
| ENST00000270162.6:c.2139C>T | ENSP00000270162.6:p.Leu713= | |
| NM_173354.3:c.2139C>T | NP_775490.2:p.Leu713= | |
| XM_011529474.1:c.1992C>T | XP_011527776.1:p.Leu664= | |
| NM_173354.4:c.2139C>T | NP_775490.2:p.Leu713= | |
| XM_011529474.2:c.1992C>T | XP_011527776.1:p.Leu664= | |
| NM_173354.5:c.2139C>T MANE Select | NP_775490.2:p.Leu713= |