Linked Data
ClinVar Variation Id:
1541364
ClinVar RCV Id:
RCV002179462
dbSNP Id:
rs1465286858
gnomAD v2:
1-11863051-C-A
gnomAD v3:
1-11802994-C-A
gnomAD v4:
1-11802994-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11802994C>A , CM000663.2:g.11802994C>A | GRCh38 |
| NC_000001.10:g.11863051C>A , CM000663.1:g.11863051C>A | GRCh37 |
| NC_000001.9:g.11785638C>A | NCBI36 |
| NG_008766.1:g.1845C>A | |
| NG_013351.1:g.8110G>T , LRG_726:g.8110G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376486.3:c.123G>T | ENSP00000365669.3:p.Arg41= | |
| ENST00000376585.6:c.246G>T | ENSP00000365770.1:p.Arg82= | |
| ENST00000376590.9:c.123G>T MANE Select | ENSP00000365775.3:p.Arg41= | |
| ENST00000376592.6:c.123G>T | ENSP00000365777.1:p.Arg41= | |
| ENST00000423400.7:c.243G>T | ENSP00000398908.3:p.Arg81= | |
| ENST00000431243.6:n.904G>T | ||
| ENST00000641407.1:c.123G>T | ENSP00000493098.1:p.Arg41= | |
| ENST00000641437.1:n.255G>T | ||
| ENST00000641446.1:c.123G>T | ENSP00000493262.1:p.Arg41= | |
| ENST00000641721.1:n.180G>T | ||
| ENST00000641747.1:c.123G>T | ENSP00000493116.1:p.Arg41= | |
| ENST00000641759.1:n.258G>T | ||
| ENST00000641805.1:n.406G>T | ||
| ENST00000641909.1:n.533G>T | ||
| ENST00000642002.1:n.352G>T | ||
| ENST00000376583.7:c.246G>T | ENSP00000365767.3:p.Arg82= | |
| ENST00000376585.5:c.246G>T | ENSP00000365770.1:p.Arg82= | |
| ENST00000376590.7:c.123G>T | ENSP00000365775.3:p.Arg41= | |
| ENST00000376592.5:c.123G>T | ENSP00000365777.1:p.Arg41= | |
| ENST00000418034.1:c.123G>T | ENSP00000405082.1:p.Arg41= | |
| NM_005957.4:c.123G>T , LRG_726t1:c.123G>T | NP_005948.3:p.Arg41= | |
| XM_005263458.2:c.246G>T | XP_005263515.1:p.Arg82= | |
| XM_005263460.3:c.123G>T | XP_005263517.1:p.Arg41= | |
| XM_005263461.3:c.123G>T | XP_005263518.1:p.Arg41= | |
| XM_005263462.3:c.123G>T | XP_005263519.1:p.Arg41= | |
| XM_005263463.2:c.-141G>T | XP_005263520.1:n.-141G>T | |
| XM_011541495.1:c.243G>T | XP_011539797.1:p.Arg81= | |
| XM_011541496.1:c.246G>T | XP_011539798.1:p.Arg82= | |
| NM_001330358.1:c.246G>T | NP_001317287.1:p.Arg82= | |
| XM_005263460.5:c.123G>T | XP_005263517.1:p.Arg41= | |
| XM_005263462.4:c.123G>T | XP_005263519.1:p.Arg41= | |
| XM_005263463.4:c.-141G>T | XP_005263520.1:n.-141G>T | |
| XM_011541495.3:c.243G>T | XP_011539797.1:p.Arg81= | |
| XM_011541496.3:c.246G>T | XP_011539798.1:p.Arg82= | |
| XM_017001328.2:c.246G>T | XP_016856817.1:p.Arg82= | |
| XM_024447198.1:c.-141G>T | XP_024302966.1:n.-141G>T | |
| XR_002956640.1:n.990G>T | ||
| NM_005957.5:c.123G>T MANE Select | NP_005948.3:p.Arg41= | |
| NM_001330358.2:c.246G>T | NP_001317287.1:p.Arg82= |