Linked Data
ClinVar Variation Id:
1682575
ClinVar RCV Id:
RCV002237547
dbSNP Id:
rs780472921
gnomAD v2:
17-75398192-C-G
gnomAD v4:
17-77402110-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.77402110C>G , CM000679.2:g.77402110C>G | GRCh38 |
| NC_000017.10:g.75398192C>G , CM000679.1:g.75398192C>G | GRCh37 |
| NC_000017.9:g.72909787C>G | NCBI36 |
| NG_011683.1:g.125701C>G | |
| NG_011683.2:g.125701C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329047.13:c.74C>G MANE Plus Clinical | ENSP00000329161.8:p.Pro25Arg | |
| ENST00000427177.6:c.128C>G MANE Select | ENSP00000391249.1:p.Pro43Arg | |
| ENST00000588690.6:c.-365C>G | ENSP00000468668.1:n.-365C>G | |
| ENST00000590294.6:n.177C>G | ||
| ENST00000329047.12:c.74C>G | ENSP00000329161.8:p.Pro25Arg | |
| ENST00000423034.6:c.107C>G | ENSP00000405877.1:p.Pro36Arg | |
| ENST00000427177.5:c.128C>G | ENSP00000391249.1:p.Pro43Arg | |
| ENST00000427674.6:c.-365C>G | ENSP00000403194.1:n.-365C>G | |
| ENST00000431235.6:c.-365C>G | ENSP00000406987.2:n.-365C>G | |
| ENST00000449803.6:c.-365C>G | ENSP00000400181.2:n.-365C>G | |
| ENST00000586812.1:n.187C>G | ||
| ENST00000587237.1:n.458C>G | ||
| ENST00000587514.1:n.257C>G | ||
| ENST00000588575.1:c.37-227C>G | ENSP00000468090.1:n.37-227C>G | |
| ENST00000588690.5:c.-365C>G | ENSP00000468668.1:n.-365C>G | |
| ENST00000589070.1:c.83C>G | ENSP00000465332.1:p.Pro28Arg | |
| ENST00000589140.1:c.83C>G | ENSP00000466997.1:p.Pro28Arg | |
| ENST00000590059.5:c.25-446C>G | ENSP00000466164.1:n.25-446C>G | |
| ENST00000590294.5:c.74C>G | ENSP00000465464.1:p.Pro25Arg | |
| ENST00000590576.5:c.*128C>G | ENSP00000465600.1:n.*128C>G | |
| ENST00000590586.1:n.233C>G | ||
| ENST00000590595.1:c.37-227C>G | ENSP00000465026.1:n.37-227C>G | |
| ENST00000590825.1:c.-365C>G | ENSP00000468244.1:n.-365C>G | |
| ENST00000591198.5:c.71C>G | ENSP00000468406.1:p.Pro24Arg | |
| ENST00000591833.5:c.*123C>G | ENSP00000466684.1:n.*123C>G | |
| ENST00000591934.1:c.149C>G | ENSP00000468504.1:p.Pro50Arg | |
| ENST00000592098.1:n.158C>G | ||
| ENST00000592420.1:c.-446C>G | ENSP00000467051.1:n.-446C>G | |
| NM_001113491.1:c.128C>G | NP_001106963.1:p.Pro43Arg | |
| NM_001113492.1:c.-365C>G | NP_001106964.1:n.-365C>G | |
| NM_001113493.1:c.107C>G | NP_001106965.1:p.Pro36Arg | |
| NM_001113494.1:c.-365C>G | NP_001106966.1:n.-365C>G | |
| NM_001293695.1:c.71C>G | NP_001280624.1:p.Pro24Arg | |
| NM_006640.4:c.74C>G | NP_006631.2:p.Pro25Arg | |
| XM_006721643.2:c.-365C>G | XP_006721706.1:n.-365C>G | |
| XM_011524204.1:c.221C>G | XP_011522506.1:p.Pro74Arg | |
| XM_011524205.1:c.218C>G | XP_011522507.1:p.Pro73Arg | |
| XM_011524206.1:c.83C>G | XP_011522508.1:p.Pro28Arg | |
| XM_011524207.1:c.-365C>G | XP_011522509.1:n.-365C>G | |
| NM_001113491.2:c.128C>G MANE Select | NP_001106963.1:p.Pro43Arg | |
| NM_001113493.2:c.107C>G | NP_001106965.1:p.Pro36Arg | |
| NM_001293695.2:c.71C>G | NP_001280624.1:p.Pro24Arg | |
| NM_001113492.2:c.-365C>G | NP_001106964.1:n.-365C>G | |
| NM_006640.5:c.74C>G MANE Plus Clinical | NP_006631.2:p.Pro25Arg |