Linked Data
ClinVar Variation Id:
2635650
dbSNP Id:
rs753048719
ExAC:
3:53845321 G / A
gnomAD v2:
3-53845321-G-A
gnomAD v3:
3-53811294-G-A
gnomAD v4:
3-53811294-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53811294G>A , CM000665.2:g.53811294G>A | GRCh38 |
| NC_000003.11:g.53845321G>A , CM000665.1:g.53845321G>A | GRCh37 |
| NC_000003.10:g.53820361G>A | NCBI36 |
| NG_032999.1:g.321246G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481478.2:c.6434G>A | ENSP00000418014.2:p.Arg2145Gln | |
| ENST00000636581.2:n.1763G>A | ||
| ENST00000636633.2:n.3373G>A | ||
| ENST00000636999.2:n.1809G>A | ||
| ENST00000288139.11:c.6434G>A MANE Plus Clinical | ENSP00000288139.3:p.Arg2145Gln | |
| ENST00000350061.11:c.6374G>A MANE Select | ENSP00000288133.5:p.Arg2125Gln | |
| ENST00000422281.7:c.6302G>A | ENSP00000409174.2:p.Arg2101Gln | |
| ENST00000636448.1:c.2495G>A | ||
| ENST00000636570.1:c.6329G>A | ENSP00000490183.1:p.Arg2110Gln | |
| ENST00000636581.1:n.1763G>A | ||
| ENST00000636629.1:n.1746G>A | ||
| ENST00000636633.1:n.3373G>A | ||
| ENST00000636999.1:n.1801G>A | ||
| ENST00000637424.1:c.6401G>A | ENSP00000489769.1:p.Arg2134Gln | |
| ENST00000288139.8:c.6434G>A | ENSP00000288139.3:p.Arg2145Gln | |
| ENST00000350061.9:c.6374G>A | ENSP00000288133.5:p.Arg2125Gln | |
| ENST00000422281.6:c.6302G>A | ENSP00000409174.2:p.Arg2101Gln | |
| ENST00000481478.1:c.5453G>A | ENSP00000418014.1:p.Arg1818Gln | |
| NM_000720.3:c.6434G>A | NP_000711.1:p.Arg2145Gln | |
| NM_001128839.2:c.6302G>A | NP_001122311.1:p.Arg2101Gln | |
| NM_001128840.2:c.6374G>A | NP_001122312.1:p.Arg2125Gln | |
| XM_005265448.2:c.6329G>A | XP_005265505.1:p.Arg2110Gln | |
| XM_011534094.1:c.6629G>A | XP_011532396.1:p.Arg2210Gln | |
| XM_011534095.1:c.6518G>A | XP_011532397.1:p.Arg2173Gln | |
| XM_011534096.1:c.6440G>A | XP_011532398.1:p.Arg2147Gln | |
| XM_011534097.1:c.6092G>A | XP_011532399.1:p.Arg2031Gln | |
| XM_011534098.1:c.6092G>A | XP_011532400.1:p.Arg2031Gln | |
| XM_011534099.1:c.5717G>A | XP_011532401.1:p.Arg1906Gln | |
| XM_011534100.1:c.6524G>A | XP_011532402.1:p.Arg2175Gln | |
| XM_005265448.3:c.6329G>A | XP_005265505.1:p.Arg2110Gln | |
| XM_011534094.2:c.6629G>A | XP_011532396.1:p.Arg2210Gln | |
| XM_011534096.2:c.6440G>A | XP_011532398.1:p.Arg2147Gln | |
| XM_011534097.2:c.6092G>A | XP_011532399.1:p.Arg2031Gln | |
| XM_011534099.2:c.5717G>A | XP_011532401.1:p.Arg1906Gln | |
| XM_011534100.2:c.6524G>A | XP_011532402.1:p.Arg2175Gln | |
| XM_017007137.1:c.6629G>A | XP_016862626.1:p.Arg2210Gln | |
| XM_017007138.1:c.6626G>A | XP_016862627.1:p.Arg2209Gln | |
| XM_017007139.1:c.6602G>A | XP_016862628.1:p.Arg2201Gln | |
| XM_017007140.1:c.6569G>A | XP_016862629.1:p.Arg2190Gln | |
| XM_017007141.1:c.6569G>A | XP_016862630.1:p.Arg2190Gln | |
| XM_017007142.1:c.6545G>A | XP_016862631.1:p.Arg2182Gln | |
| XM_017007143.1:c.6545G>A | XP_016862632.1:p.Arg2182Gln | |
| XM_017007144.1:c.6545G>A | XP_016862633.1:p.Arg2182Gln | |
| XM_017007145.1:c.6500G>A | XP_016862634.1:p.Arg2167Gln | |
| NM_001128840.3:c.6374G>A MANE Select | NP_001122312.1:p.Arg2125Gln | |
| NM_000720.4:c.6434G>A MANE Plus Clinical | NP_000711.1:p.Arg2145Gln | |
| NM_001128839.3:c.6302G>A | NP_001122311.1:p.Arg2101Gln |