Linked Data
ClinVar Variation Id:
706432
ClinVar RCV Id:
RCV002539237
dbSNP Id:
rs201724975
gnomAD v3:
21-25891863-G-A
gnomAD v4:
21-25891863-G-A
MyVariant Identifiers:
chr21:g.27264175G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25891863G>A , CM000683.2:g.25891863G>A | GRCh38 |
| NC_000021.8:g.27264175G>A , CM000683.1:g.27264175G>A | GRCh37 |
| NC_000021.7:g.26186046G>A | NCBI36 |
| NG_007376.1:g.283958C>T | |
| NG_007376.2:g.284266C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.2037C>T | ||
| ENST00000707133.1:n.467C>T | ||
| ENST00000707134.1:n.736C>T | ||
| ENST00000346798.8:c.2070C>T MANE Select | ENSP00000284981.4:p.Phe690= | |
| ENST00000346798.7:c.2070C>T | ENSP00000284981.4:p.Phe690= | |
| ENST00000348990.9:c.1845C>T | ENSP00000345463.5:p.Phe615= | |
| ENST00000354192.7:c.1677C>T | ENSP00000346129.3:p.Phe559= | |
| ENST00000357903.7:c.2013C>T | ENSP00000350578.3:p.Phe671= | |
| ENST00000358918.7:c.2016C>T | ENSP00000351796.3:p.Phe672= | |
| ENST00000359726.7:c.1740C>T | ENSP00000352760.4:p.Phe580= | |
| ENST00000439274.6:c.1902C>T | ENSP00000398879.2:p.Phe634= | |
| ENST00000440126.7:c.1998C>T | ENSP00000387483.2:p.Phe666= | |
| ENST00000464867.1:n.417C>T | ||
| NM_000484.3:c.2070C>T | NP_000475.1:p.Phe690= | |
| NM_001136016.3:c.1998C>T | NP_001129488.1:p.Phe666= | |
| NM_001136129.2:c.1677C>T | NP_001129601.1:p.Phe559= | |
| NM_001136130.2:c.1902C>T | NP_001129602.1:p.Phe634= | |
| NM_001136131.2:c.1740C>T | NP_001129603.1:p.Phe580= | |
| NM_001204301.1:c.2016C>T | NP_001191230.1:p.Phe672= | |
| NM_001204302.1:c.1959C>T | NP_001191231.1:p.Phe653= | |
| NM_001204303.1:c.1791C>T | NP_001191232.1:p.Phe597= | |
| NM_201413.2:c.2013C>T | NP_958816.1:p.Phe671= | |
| NM_201414.2:c.1845C>T | NP_958817.1:p.Phe615= | |
| NM_000484.4:c.2070C>T MANE Select | NP_000475.1:p.Phe690= | |
| NM_001136129.3:c.1677C>T | NP_001129601.1:p.Phe559= | |
| NM_001136130.3:c.1902C>T | NP_001129602.1:p.Phe634= | |
| NM_001204301.2:c.2016C>T | NP_001191230.1:p.Phe672= | |
| NM_001204302.2:c.1959C>T | NP_001191231.1:p.Phe653= | |
| NM_001204303.2:c.1791C>T | NP_001191232.1:p.Phe597= | |
| NM_201413.3:c.2013C>T | NP_958816.1:p.Phe671= | |
| NM_201414.3:c.1845C>T | NP_958817.1:p.Phe615= | |
| NM_001136131.3:c.1740C>T | NP_001129603.1:p.Phe580= | |
| NM_001385253.1:c.1902C>T | NP_001372182.1:p.Phe634= |