Linked Data
ClinVar Variation Id:
338580
ClinVar RCV Id:
RCV000316673
dbSNP Id:
rs565941222
gnomAD v2:
20-44757857-G-A
gnomAD v3:
20-46129218-G-A
gnomAD v4:
20-46129218-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46129218G>A , CM000682.2:g.46129218G>A | GRCh38 |
| NC_000020.10:g.44757857G>A , CM000682.1:g.44757857G>A | GRCh37 |
| NC_000020.9:g.44191264G>A | NCBI36 |
| NG_007279.1:g.15952G>A , LRG_40:g.15952G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489304.6:c.1095G>A | ENSP00000512096.1:n.1095G>A | |
| ENST00000695675.1:n.2888G>A | ||
| ENST00000372285.8:c.*178G>A MANE Select | ENSP00000361359.3:n.*178G>A | |
| ENST00000372276.7:c.*338G>A | ENSP00000361350.3:n.*338G>A | |
| ENST00000372285.7:c.*178G>A | ENSP00000361359.3:n.*178G>A | |
| ENST00000489304.5:n.1088G>A | ||
| ENST00000620709.4:c.*559G>A | ENSP00000484074.1:n.*559G>A | |
| NM_001250.5:c.*178G>A | NP_001241.1:n.*178G>A | |
| NM_001302753.1:c.*338G>A | NP_001289682.1:n.*338G>A | |
| NM_152854.3:c.*338G>A | NP_690593.1:n.*338G>A | |
| NR_126502.1:n.1105G>A | ||
| XM_005260617.2:c.*178G>A | XP_005260674.1:n.*178G>A | |
| XM_005260619.2:c.*178G>A | XP_005260676.1:n.*178G>A | |
| NM_001322421.1:c.*178G>A | NP_001309350.1:n.*178G>A | |
| NM_001322422.1:c.*178G>A | NP_001309351.1:n.*178G>A | |
| NM_001362758.1:c.*338G>A | NP_001349687.1:n.*338G>A | |
| NR_136327.1:n.1008G>A | ||
| XM_005260619.3:c.*178G>A | XP_005260676.1:n.*178G>A | |
| XM_017028135.1:c.*75G>A | XP_016883624.1:n.*75G>A | |
| XM_017028136.1:c.*75G>A | XP_016883625.1:n.*75G>A | |
| NM_001250.6:c.*178G>A MANE Select | NP_001241.1:n.*178G>A | |
| NM_001302753.2:c.*338G>A | NP_001289682.1:n.*338G>A | |
| NM_001322421.2:c.*178G>A | NP_001309350.1:n.*178G>A | |
| NM_001322422.2:c.*178G>A | NP_001309351.1:n.*178G>A | |
| NM_001362758.2:c.*338G>A | NP_001349687.1:n.*338G>A | |
| NM_152854.4:c.*338G>A | NP_690593.1:n.*338G>A | |
| NR_126502.2:n.1045G>A | ||
| NR_136327.2:n.948G>A |