Linked Data
ClinVar Variation Id:
226479
dbSNP Id:
rs150838215
ExAC:
3:53845384 G / A
gnomAD v2:
3-53845384-G-A
gnomAD v3:
3-53811357-G-A
gnomAD v4:
3-53811357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53811357G>A , CM000665.2:g.53811357G>A | GRCh38 |
| NC_000003.11:g.53845384G>A , CM000665.1:g.53845384G>A | GRCh37 |
| NC_000003.10:g.53820424G>A | NCBI36 |
| NG_032999.1:g.321309G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481478.2:c.6497G>A | ENSP00000418014.2:p.Arg2166Lys | |
| ENST00000636581.2:n.1826G>A | ||
| ENST00000636633.2:n.3436G>A | ||
| ENST00000636999.2:n.1872G>A | ||
| ENST00000288139.11:c.6497G>A MANE Plus Clinical | ENSP00000288139.3:p.Arg2166Lys | |
| ENST00000350061.11:c.6437G>A MANE Select | ENSP00000288133.5:p.Arg2146Lys | |
| ENST00000422281.7:c.6365G>A | ENSP00000409174.2:p.Arg2122Lys | |
| ENST00000636448.1:c.2558G>A | ||
| ENST00000636570.1:c.6392G>A | ENSP00000490183.1:p.Arg2131Lys | |
| ENST00000636581.1:n.1826G>A | ||
| ENST00000636633.1:n.3436G>A | ||
| ENST00000636999.1:n.1864G>A | ||
| ENST00000637424.1:c.6464G>A | ENSP00000489769.1:p.Arg2155Lys | |
| ENST00000288139.8:c.6497G>A | ENSP00000288139.3:p.Arg2166Lys | |
| ENST00000350061.9:c.6437G>A | ENSP00000288133.5:p.Arg2146Lys | |
| ENST00000422281.6:c.6365G>A | ENSP00000409174.2:p.Arg2122Lys | |
| ENST00000481478.1:c.5516G>A | ENSP00000418014.1:p.Arg1839Lys | |
| NM_000720.3:c.6497G>A | NP_000711.1:p.Arg2166Lys | |
| NM_001128839.2:c.6365G>A | NP_001122311.1:p.Arg2122Lys | |
| NM_001128840.2:c.6437G>A | NP_001122312.1:p.Arg2146Lys | |
| XM_005265448.2:c.6392G>A | XP_005265505.1:p.Arg2131Lys | |
| XM_011534094.1:c.6692G>A | XP_011532396.1:p.Arg2231Lys | |
| XM_011534095.1:c.6581G>A | XP_011532397.1:p.Arg2194Lys | |
| XM_011534096.1:c.6503G>A | XP_011532398.1:p.Arg2168Lys | |
| XM_011534097.1:c.6155G>A | XP_011532399.1:p.Arg2052Lys | |
| XM_011534098.1:c.6155G>A | XP_011532400.1:p.Arg2052Lys | |
| XM_011534099.1:c.5780G>A | XP_011532401.1:p.Arg1927Lys | |
| XM_011534100.1:c.6587G>A | XP_011532402.1:p.Arg2196Lys | |
| XM_005265448.3:c.6392G>A | XP_005265505.1:p.Arg2131Lys | |
| XM_011534094.2:c.6692G>A | XP_011532396.1:p.Arg2231Lys | |
| XM_011534096.2:c.6503G>A | XP_011532398.1:p.Arg2168Lys | |
| XM_011534097.2:c.6155G>A | XP_011532399.1:p.Arg2052Lys | |
| XM_011534099.2:c.5780G>A | XP_011532401.1:p.Arg1927Lys | |
| XM_011534100.2:c.6587G>A | XP_011532402.1:p.Arg2196Lys | |
| XM_017007137.1:c.6692G>A | XP_016862626.1:p.Arg2231Lys | |
| XM_017007138.1:c.6689G>A | XP_016862627.1:p.Arg2230Lys | |
| XM_017007139.1:c.6665G>A | XP_016862628.1:p.Arg2222Lys | |
| XM_017007140.1:c.6632G>A | XP_016862629.1:p.Arg2211Lys | |
| XM_017007141.1:c.6632G>A | XP_016862630.1:p.Arg2211Lys | |
| XM_017007142.1:c.6608G>A | XP_016862631.1:p.Arg2203Lys | |
| XM_017007143.1:c.6608G>A | XP_016862632.1:p.Arg2203Lys | |
| XM_017007144.1:c.6608G>A | XP_016862633.1:p.Arg2203Lys | |
| XM_017007145.1:c.6563G>A | XP_016862634.1:p.Arg2188Lys | |
| NM_001128840.3:c.6437G>A MANE Select | NP_001122312.1:p.Arg2146Lys | |
| NM_000720.4:c.6497G>A MANE Plus Clinical | NP_000711.1:p.Arg2166Lys | |
| NM_001128839.3:c.6365G>A | NP_001122311.1:p.Arg2122Lys |