Linked Data
ClinVar Variation Id:
338576
dbSNP Id:
rs11086998
ExAC:
20:44757524 C / G
gnomAD v2:
20-44757524-C-G
gnomAD v3:
20-46128885-C-G
gnomAD v4:
20-46128885-C-G
PubMed:
PMID:18591382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46128885C>G , CM000682.2:g.46128885C>G | GRCh38 |
| NC_000020.10:g.44757524C>G , CM000682.1:g.44757524C>G | GRCh37 |
| NC_000020.9:g.44190931C>G | NCBI36 |
| NG_007279.1:g.15619C>G , LRG_40:g.15619C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000477696.6:c.681C>G | ENSP00000512095.1:n.681C>G | |
| ENST00000489304.6:c.762C>G | ENSP00000512096.1:n.762C>G | |
| ENST00000695675.1:n.2555C>G | ||
| ENST00000372285.8:c.679C>G MANE Select | ENSP00000361359.3:p.Pro227Ala | |
| ENST00000372276.7:c.*5C>G | ENSP00000361350.3:n.*5C>G | |
| ENST00000372285.7:c.679C>G | ENSP00000361359.3:p.Pro227Ala | |
| ENST00000466205.5:c.581C>G | ||
| ENST00000477696.5:n.652C>G | ||
| ENST00000489304.5:n.755C>G | ||
| ENST00000620709.4:c.*226C>G | ENSP00000484074.1:n.*226C>G | |
| NM_001250.5:c.679C>G | NP_001241.1:p.Pro227Ala | |
| NM_001302753.1:c.*5C>G | NP_001289682.1:n.*5C>G | |
| NM_152854.3:c.*5C>G | NP_690593.1:n.*5C>G | |
| NR_126502.1:n.772C>G | ||
| XM_005260617.2:c.691C>G | XP_005260674.1:p.Pro231Ala | |
| XM_005260619.2:c.535C>G | XP_005260676.1:p.Pro179Ala | |
| XR_936660.1:n.679C>G | ||
| NM_001322421.1:c.691C>G | NP_001309350.1:p.Pro231Ala | |
| NM_001322422.1:c.523C>G | NP_001309351.1:p.Pro175Ala | |
| NM_001362758.1:c.*5C>G | NP_001349687.1:n.*5C>G | |
| NR_136327.1:n.675C>G | ||
| XM_005260619.3:c.535C>G | XP_005260676.1:p.Pro179Ala | |
| XM_017028135.1:c.714C>G | XP_016883624.1:p.Pro238= | |
| XM_017028136.1:c.612C>G | XP_016883625.1:p.Pro204= | |
| NM_001250.6:c.679C>G MANE Select | NP_001241.1:p.Pro227Ala | |
| NM_001302753.2:c.*5C>G | NP_001289682.1:n.*5C>G | |
| NM_001322421.2:c.691C>G | NP_001309350.1:p.Pro231Ala | |
| NM_001322422.2:c.523C>G | NP_001309351.1:p.Pro175Ala | |
| NM_001362758.2:c.*5C>G | NP_001349687.1:n.*5C>G | |
| NM_152854.4:c.*5C>G | NP_690593.1:n.*5C>G | |
| NR_126502.2:n.712C>G | ||
| NR_136327.2:n.615C>G |