Linked Data
ClinVar Variation Id:
2238646
ClinVar RCV Id:
RCV002729333
dbSNP Id:
rs1333370151
gnomAD v2:
16-68679570-C-G
gnomAD v3:
16-68645667-C-G
gnomAD v4:
16-68645667-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645667C>G , CM000678.2:g.68645667C>G | GRCh38 |
| NC_000016.9:g.68679570C>G , CM000678.1:g.68679570C>G | GRCh37 |
| NC_000016.8:g.67237071C>G | NCBI36 |
| NG_009096.1:g.6420C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.77C>G MANE Select | ENSP00000264012.4:p.Pro26Arg | |
| ENST00000264012.8:c.77C>G | ENSP00000264012.4:p.Pro26Arg | |
| ENST00000429102.6:c.77C>G | ENSP00000398485.2:p.Pro26Arg | |
| ENST00000542274.5:c.45+243C>G | ENSP00000464021.1:n.45+243C>G | |
| ENST00000566808.2:c.31C>G | ||
| NM_001793.4:c.77C>G | NP_001784.2:p.Pro26Arg | |
| XM_011522800.1:c.77C>G | XP_011521102.1:p.Pro26Arg | |
| NM_001317195.1:c.77C>G | NP_001304124.1:p.Pro26Arg | |
| NM_001317196.1:c.-6+243C>G | NP_001304125.1:n.-6+243C>G | |
| NM_001793.5:c.77C>G | NP_001784.2:p.Pro26Arg | |
| XM_011522800.3:c.77C>G | XP_011521102.1:p.Pro26Arg | |
| NM_001793.6:c.77C>G MANE Select | NP_001784.2:p.Pro26Arg | |
| NM_001317195.2:c.77C>G | NP_001304124.1:p.Pro26Arg | |
| NM_001317196.2:c.-6+243C>G | NP_001304125.1:n.-6+243C>G | |
| NM_001317195.3:c.77C>G | NP_001304124.1:p.Pro26Arg |