Linked Data
ClinVar Variation Id:
2063803
ClinVar RCV Id:
RCV002942975
dbSNP Id:
rs371010069
ExAC:
17:61564015 G / A
gnomAD v2:
17-61564015-G-A
gnomAD v3:
17-63486654-G-A
gnomAD v4:
17-63486654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63486654G>A , CM000679.2:g.63486654G>A | GRCh38 |
| NC_000017.10:g.61564015G>A , CM000679.1:g.61564015G>A | GRCh37 |
| NC_000017.9:g.58917747G>A | NCBI36 |
| NG_011648.1:g.14582G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2156G>A MANE Select | ENSP00000290866.4:p.Arg719Gln | |
| ENST00000290863.10:c.434G>A | ENSP00000290863.6:p.Arg145Gln | |
| ENST00000290866.9:c.2156G>A | ENSP00000290866.4:p.Arg719Gln | |
| ENST00000413513.7:c.434G>A | ENSP00000392247.3:p.Arg145Gln | |
| ENST00000428043.5:c.2156G>A | ENSP00000397593.2:p.Arg719Gln | |
| ENST00000577647.2:c.434G>A | ENSP00000464149.1:p.Arg145Gln | |
| ENST00000578839.5:c.*226G>A | ENSP00000462110.2:n.*226G>A | |
| ENST00000579204.1:c.337G>A | ENSP00000464629.1:n.337G>A | |
| ENST00000579314.5:c.434G>A | ENSP00000462599.1:p.Arg145Gln | |
| ENST00000579726.5:c.718G>A | ||
| ENST00000582005.5:c.*76G>A | ENSP00000462002.1:n.*76G>A | |
| NM_000789.3:c.2156G>A | NP_000780.1:p.Arg719Gln | |
| NM_001178057.1:c.434G>A | NP_001171528.1:p.Arg145Gln | |
| NM_152830.2:c.434G>A | NP_690043.1:p.Arg145Gln | |
| XM_005257110.1:c.1607G>A | XP_005257167.1:p.Arg536Gln | |
| XM_006721737.2:c.494G>A | XP_006721800.2:p.Arg165Gln | |
| XM_006721737.3:c.494G>A | XP_006721800.2:p.Arg165Gln | |
| NM_000789.4:c.2156G>A MANE Select | NP_000780.1:p.Arg719Gln | |
| NM_001178057.2:c.434G>A | NP_001171528.1:p.Arg145Gln | |
| NM_152830.3:c.434G>A | NP_690043.1:p.Arg145Gln | |
| NM_001382700.1:c.1589G>A | NP_001369629.1:p.Arg530Gln | |
| NM_001382701.1:c.1304G>A | NP_001369630.1:p.Arg435Gln | |
| NM_001382702.1:c.86G>A | NP_001369631.1:p.Arg29Gln | |
| NR_168483.1:n.456G>A |