Linked Data
ClinVar Variation Id:
410632
ClinVar RCV Id:
RCV000474323
dbSNP Id:
rs587621539
ExAC:
3:50382926 A / G
gnomAD v2:
3-50382926-A-G
gnomAD v3:
3-50345495-A-G
gnomAD v4:
3-50345495-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50345495A>G , CM000665.2:g.50345495A>G | GRCh38 |
| NC_000003.11:g.50382926A>G , CM000665.1:g.50382926A>G | GRCh37 |
| NC_000003.10:g.50357930A>G | NCBI36 |
| NG_023270.1:g.442T>C | |
| NG_042828.1:g.5252T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.85T>C MANE Select | ENSP00000231749.3:p.Ser29Pro | |
| ENST00000231749.7:c.85T>C | ENSP00000231749.3:p.Ser29Pro | |
| ENST00000360165.7:c.85T>C | ENSP00000353289.3:p.Ser29Pro | |
| ENST00000431869.1:c.85T>C | ENSP00000391545.1:p.Ser29Pro | |
| ENST00000442887.1:c.-38+40T>C | ENSP00000393687.1:n.-38+40T>C | |
| ENST00000443080.5:c.85T>C | ENSP00000415661.1:p.Ser29Pro | |
| ENST00000468182.1:n.187T>C | ||
| NM_001308379.1:c.85T>C | NP_001295308.1:p.Ser29Pro | |
| NM_015896.2:c.85T>C | NP_056980.2:p.Ser29Pro | |
| NM_015896.3:c.85T>C | NP_056980.2:p.Ser29Pro | |
| XM_005265216.2:c.-44T>C | XP_005265273.1:n.-44T>C | |
| XM_005265216.3:c.-44T>C | XP_005265273.1:n.-44T>C | |
| NM_015896.4:c.85T>C MANE Select | NP_056980.2:p.Ser29Pro | |
| NM_001308379.2:c.85T>C | NP_001295308.1:p.Ser29Pro |