Linked Data
ClinVar Variation Id:
1402817
ClinVar RCV Id:
RCV001897043
dbSNP Id:
rs200049699
ExAC:
21:45753111 G / C
gnomAD v2:
21-45753111-G-C
gnomAD v3:
21-44333228-G-C
gnomAD v4:
21-44333228-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333228G>C , CM000683.2:g.44333228G>C | GRCh38 |
| NC_000021.8:g.45753111G>C , CM000683.1:g.45753111G>C | GRCh37 |
| NC_000021.7:g.44577539G>C | NCBI36 |
| NG_032952.1:g.11175C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.178C>G MANE Select | ENSP00000344566.4:p.Arg60Gly | |
| ENST00000325223.7:c.178C>G | ENSP00000317302.7:p.Arg60Gly | |
| ENST00000339818.8:c.178C>G | ENSP00000344566.4:p.Arg60Gly | |
| ENST00000397956.7:c.178C>G | ENSP00000381047.3:p.Arg60Gly | |
| ENST00000462742.1:n.2349C>G | ||
| ENST00000478674.1:n.237C>G | ||
| ENST00000496321.5:n.294C>G | ||
| NM_001271440.1:c.178C>G | NP_001258369.1:p.Arg60Gly | |
| NM_001271441.1:c.178C>G | NP_001258370.1:p.Arg60Gly | |
| NM_001271442.1:c.55C>G | NP_001258371.1:p.Arg19Gly | |
| NM_004928.2:c.178C>G | NP_004919.1:p.Arg60Gly | |
| XM_006724051.2:c.253C>G | XP_006724114.1:p.Arg85Gly | |
| XM_006724052.2:c.253C>G | XP_006724115.1:p.Arg85Gly | |
| XM_006724053.2:c.-147C>G | XP_006724116.1:n.-147C>G | |
| XR_937571.1:n.381C>G | ||
| XM_006724051.3:c.253C>G | XP_006724114.1:p.Arg85Gly | |
| XM_006724053.3:c.-147C>G | XP_006724116.1:n.-147C>G | |
| XM_017028470.1:c.382C>G | XP_016883959.1:p.Arg128Gly | |
| XM_017028471.1:c.127C>G | XP_016883960.1:p.Arg43Gly | |
| XM_017028472.1:c.-147C>G | XP_016883961.1:n.-147C>G | |
| XR_937571.2:n.388C>G | ||
| NM_004928.3:c.178C>G MANE Select | NP_004919.1:p.Arg60Gly | |
| NM_001271440.2:c.178C>G | NP_001258369.1:p.Arg60Gly | |
| NM_001271441.2:c.178C>G | NP_001258370.1:p.Arg60Gly |