Linked Data
ClinVar Variation Id:
428573
ClinVar RCV Id:
RCV000492059
RCV000504995
RCV000504803
RCV001075775
RCV001091473
RCV001376208
RCV003409679
dbSNP Id:
rs140451304
ExAC:
21:45753071 C / G
gnomAD v2:
21-45753071-C-G
gnomAD v3:
21-44333188-C-G
gnomAD v4:
21-44333188-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44333188C>G , CM000683.2:g.44333188C>G | GRCh38 |
| NC_000021.8:g.45753071C>G , CM000683.1:g.45753071C>G | GRCh37 |
| NC_000021.7:g.44577499C>G | NCBI36 |
| NG_032952.1:g.11215G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339818.9:c.218G>C MANE Select | ENSP00000344566.4:p.Arg73Pro | |
| ENST00000325223.7:c.218G>C | ENSP00000317302.7:p.Arg73Pro | |
| ENST00000339818.8:c.218G>C | ENSP00000344566.4:p.Arg73Pro | |
| ENST00000397956.7:c.218G>C | ENSP00000381047.3:p.Arg73Pro | |
| ENST00000462742.1:n.2389G>C | ||
| ENST00000478674.1:n.277G>C | ||
| ENST00000496321.5:n.334G>C | ||
| NM_001271440.1:c.218G>C | NP_001258369.1:p.Arg73Pro | |
| NM_001271441.1:c.218G>C | NP_001258370.1:p.Arg73Pro | |
| NM_001271442.1:c.95G>C | NP_001258371.1:p.Arg32Pro | |
| NM_004928.2:c.218G>C | NP_004919.1:p.Arg73Pro | |
| XM_006724051.2:c.293G>C | XP_006724114.1:p.Arg98Pro | |
| XM_006724052.2:c.293G>C | XP_006724115.1:p.Arg98Pro | |
| XM_006724053.2:c.-107G>C | XP_006724116.1:n.-107G>C | |
| XR_937571.1:n.421G>C | ||
| XM_006724051.3:c.293G>C | XP_006724114.1:p.Arg98Pro | |
| XM_006724053.3:c.-107G>C | XP_006724116.1:n.-107G>C | |
| XM_017028470.1:c.422G>C | XP_016883959.1:p.Arg141Pro | |
| XM_017028471.1:c.167G>C | XP_016883960.1:p.Arg56Pro | |
| XM_017028472.1:c.-107G>C | XP_016883961.1:n.-107G>C | |
| XR_937571.2:n.428G>C | ||
| NM_004928.3:c.218G>C MANE Select | NP_004919.1:p.Arg73Pro | |
| NM_001271440.2:c.218G>C | NP_001258369.1:p.Arg73Pro | |
| NM_001271441.2:c.218G>C | NP_001258370.1:p.Arg73Pro |