Linked Data
ClinVar Variation Id:
496311
dbSNP Id:
rs779699814
ExAC:
2:39281755 A / G
gnomAD v2:
2-39281755-A-G
gnomAD v4:
2-39054614-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39054614A>G , CM000664.2:g.39054614A>G | GRCh38 |
| NC_000002.11:g.39281755A>G , CM000664.1:g.39281755A>G | GRCh37 |
| NC_000002.10:g.39135259A>G | NCBI36 |
| NG_007530.1:g.70850T>C , LRG_754:g.70850T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.747T>C | ||
| ENST00000685782.1:n.1558T>C | ||
| ENST00000688189.1:n.485T>C | ||
| ENST00000689668.1:n.727T>C | ||
| ENST00000690679.1:c.820T>C | ||
| ENST00000690876.1:c.720T>C | ENSP00000508955.1:p.Asn240= | |
| ENST00000691229.1:c.720T>C | ENSP00000510437.1:p.Asn240= | |
| ENST00000692089.1:c.720T>C | ENSP00000508626.1:p.Asn240= | |
| ENST00000402219.8:c.720T>C MANE Select | ENSP00000384675.2:p.Asn240= | |
| ENST00000395038.6:c.720T>C | ENSP00000378479.2:p.Asn240= | |
| ENST00000402219.6:c.720T>C | ENSP00000384675.2:p.Asn240= | |
| ENST00000426016.5:c.720T>C | ENSP00000387784.1:p.Asn240= | |
| NM_005633.3:c.720T>C , LRG_754t1:c.720T>C | NP_005624.2:p.Asn240= | |
| XM_005264515.3:c.720T>C | XP_005264572.1:p.Asn240= | |
| XM_011533060.1:c.813T>C | XP_011531362.1:p.Asn271= | |
| XM_011533061.1:c.813T>C | XP_011531363.1:p.Asn271= | |
| XM_011533062.1:c.699T>C | XP_011531364.1:p.Asn233= | |
| XM_011533063.1:c.696T>C | XP_011531365.1:p.Asn232= | |
| XM_011533064.1:c.549T>C | XP_011531366.1:p.Asn183= | |
| XM_011533065.1:c.813T>C | XP_011531367.1:p.Asn271= | |
| XM_005264515.4:c.720T>C | XP_005264572.1:p.Asn240= | |
| XM_011533062.2:c.699T>C | XP_011531364.1:p.Asn233= | |
| XM_011533064.2:c.549T>C | XP_011531366.1:p.Asn183= | |
| NM_001382394.1:c.699T>C | NP_001369323.1:p.Asn233= | |
| NM_001382395.1:c.720T>C | NP_001369324.1:p.Asn240= | |
| NM_005633.4:c.720T>C MANE Select | NP_005624.2:p.Asn240= |