Linked Data
ClinVar Variation Id:
2144783
ClinVar RCV Id:
RCV003063106
dbSNP Id:
rs368531853
ExAC:
10:96058154 G / A
gnomAD v2:
10-96058154-G-A
gnomAD v3:
10-94298397-G-A
gnomAD v4:
10-94298397-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298397G>A , CM000672.2:g.94298397G>A | GRCh38 |
| NC_000010.10:g.96058154G>A , CM000672.1:g.96058154G>A | GRCh37 |
| NC_000010.9:g.96048144G>A | NCBI36 |
| NG_015799.1:g.309409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4262G>A | ENSP00000360426.1:p.Arg1421Gln | |
| ENST00000685253.1:c.*1729G>A | ENSP00000509405.1:n.*1729G>A | |
| ENST00000685889.1:n.1921G>A | ||
| ENST00000686807.1:n.605G>A | ||
| ENST00000686954.1:c.*470G>A | ENSP00000508416.1:n.*470G>A | |
| ENST00000688810.1:c.4214G>A | ENSP00000509140.1:p.Arg1405Gln | |
| ENST00000689233.1:n.9394G>A | ||
| ENST00000690340.1:n.2859G>A | ||
| ENST00000692286.1:c.5054G>A | ENSP00000509490.1:p.Arg1685Gln | |
| ENST00000692396.1:c.5138G>A | ENSP00000508605.1:p.Arg1713Gln | |
| ENST00000371380.8:c.5186G>A MANE Select | ENSP00000360431.2:p.Arg1729Gln | |
| ENST00000371385.8:c.4160G>A | ENSP00000360438.4:p.Arg1387Gln | |
| ENST00000674738.1:c.3741G>A | ||
| ENST00000674827.1:c.3302G>A | ENSP00000502523.1:p.Arg1101Gln | |
| ENST00000675218.1:c.4262G>A | ENSP00000501910.1:p.Arg1421Gln | |
| ENST00000675487.1:c.*1119G>A | ENSP00000502340.1:n.*1119G>A | |
| ENST00000675718.1:c.4455G>A | ||
| ENST00000676102.1:c.4031G>A | ENSP00000502811.1:p.Arg1344Gln | |
| ENST00000260766.7:c.5186G>A | ENSP00000260766.3:p.Arg1729Gln | |
| ENST00000371375.1:c.4262G>A | ENSP00000360426.1:p.Arg1421Gln | |
| ENST00000371380.7:c.5186G>A | ENSP00000360431.2:p.Arg1729Gln | |
| ENST00000371385.7:c.4262G>A | ENSP00000360438.3:p.Arg1421Gln | |
| NM_001165979.2:c.4262G>A | NP_001159451.1:p.Arg1421Gln | |
| NM_001288989.1:c.5138G>A | NP_001275918.1:p.Arg1713Gln | |
| NM_016341.3:c.5186G>A | NP_057425.3:p.Arg1729Gln | |
| XM_006717885.2:c.5228G>A | XP_006717948.1:p.Arg1743Gln | |
| XM_006717886.2:c.5228G>A | XP_006717949.1:p.Arg1743Gln | |
| XM_006717888.2:c.5225G>A | XP_006717951.1:p.Arg1742Gln | |
| XM_006717889.2:c.5180G>A | XP_006717952.1:p.Arg1727Gln | |
| XM_006717890.1:c.4304G>A | XP_006717953.1:p.Arg1435Gln | |
| XM_011539849.1:c.5228G>A | XP_011538151.1:p.Arg1743Gln | |
| XM_011539850.1:c.4073G>A | XP_011538152.1:p.Arg1358Gln | |
| XM_006717885.4:c.5228G>A | XP_006717948.1:p.Arg1743Gln | |
| XM_006717888.4:c.5225G>A | XP_006717951.1:p.Arg1742Gln | |
| XM_006717889.4:c.5180G>A | XP_006717952.1:p.Arg1727Gln | |
| XM_006717890.3:c.4304G>A | XP_006717953.1:p.Arg1435Gln | |
| XM_011539849.3:c.5228G>A | XP_011538151.1:p.Arg1743Gln | |
| XM_011539850.3:c.4073G>A | XP_011538152.1:p.Arg1358Gln | |
| XM_017016310.2:c.5228G>A | XP_016871799.1:p.Arg1743Gln | |
| XM_017016311.2:c.5228G>A | XP_016871800.1:p.Arg1743Gln | |
| XM_017016312.2:c.4214G>A | XP_016871801.1:p.Arg1405Gln | |
| NM_001288989.2:c.5138G>A | NP_001275918.1:p.Arg1713Gln | |
| NM_016341.4:c.5186G>A MANE Select | NP_057425.3:p.Arg1729Gln |