Linked Data
ClinVar Variation Id:
1405415
ClinVar RCV Id:
RCV001903788
dbSNP Id:
rs2146467751
MyVariant Identifiers:
chr21:g.43416957G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43416957G>C , CM000683.2:g.43416957G>C | GRCh38 |
| NG_052009.1:g.15176C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.2137C>G MANE Select | ENSP00000270162.6:p.Leu713Val | |
| ENST00000270162.6:c.2137C>G | ENSP00000270162.6:p.Leu713Val | |
| NM_173354.3:c.2137C>G | NP_775490.2:p.Leu713Val | |
| XM_011529474.1:c.1990C>G | XP_011527776.1:p.Leu664Val | |
| NM_173354.4:c.2137C>G | NP_775490.2:p.Leu713Val | |
| XM_011529474.2:c.1990C>G | XP_011527776.1:p.Leu664Val | |
| NM_173354.5:c.2137C>G MANE Select | NP_775490.2:p.Leu713Val |