Linked Data
ClinVar Variation Id:
931887
dbSNP Id:
rs1340183572
gnomAD v2:
6-157522253-G-A
gnomAD v4:
6-157201119-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201119G>A , CM000668.2:g.157201119G>A | GRCh38 |
| NC_000006.11:g.157522253G>A , CM000668.1:g.157522253G>A | GRCh37 |
| NC_000006.10:g.157563945G>A | NCBI36 |
| NG_032093.1:g.428190G>A | |
| NG_032093.2:g.428190G>A | |
| NG_066624.1:g.430094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4735G>A | ENSP00000055163.8:p.Glu1579Lys | |
| ENST00000414678.8:c.4804G>A | ENSP00000412835.3:p.Glu1602Lys | |
| ENST00000637015.2:c.5023G>A | ENSP00000489729.2:p.Glu1675Lys | |
| ENST00000346085.10:c.4774G>A | ENSP00000344546.5:p.Glu1592Lys | |
| ENST00000350026.10:c.4486G>A | ENSP00000055163.7:p.Glu1496Lys | |
| ENST00000414678.7:c.3052G>A | ENSP00000412835.2:p.Glu1018Lys | |
| ENST00000635849.1:c.2215G>A | ENSP00000490948.1:p.Glu739Lys | |
| ENST00000635957.1:c.1846G>A | ENSP00000490385.1:p.Glu616Lys | |
| ENST00000636227.1:n.3357G>A | ||
| ENST00000636254.1:n.814G>A | ||
| ENST00000636930.2:c.4894G>A MANE Select | ENSP00000490491.2:p.Glu1632Lys | |
| ENST00000636940.1:n.2891G>A | ||
| ENST00000637015.1:c.2262G>A | ||
| ENST00000637568.1:c.2176G>A | ||
| ENST00000637741.1:n.1560G>A | ||
| ENST00000637810.1:c.2236G>A | ENSP00000489636.1:p.Glu746Lys | |
| ENST00000637904.1:c.2395G>A | ENSP00000490550.1:p.Glu799Lys | |
| ENST00000647938.1:c.4525G>A | ENSP00000498155.1:p.Glu1509Lys | |
| ENST00000346085.9:c.4525G>A | ENSP00000344546.4:p.Glu1509Lys | |
| ENST00000350026.9:c.4486G>A | ENSP00000055163.7:p.Glu1496Lys | |
| ENST00000414678.6:c.3052G>A | ENSP00000412835.2:p.Glu1018Lys | |
| NM_017519.2:c.4486G>A | NP_059989.2:p.Glu1496Lys | |
| NM_020732.3:c.4525G>A | NP_065783.3:p.Glu1509Lys | |
| XM_005267069.3:c.4645G>A | XP_005267126.2:p.Glu1549Lys | |
| XM_011535984.1:c.3724G>A | XP_011534286.1:p.Glu1242Lys | |
| XM_011535985.1:c.3544G>A | XP_011534287.1:p.Glu1182Lys | |
| XM_011535986.1:c.3304G>A | XP_011534288.1:p.Glu1102Lys | |
| XM_011535987.1:c.2923G>A | XP_011534289.1:p.Glu975Lys | |
| XM_011535988.1:c.1786G>A | XP_011534290.1:p.Glu596Lys | |
| NM_001346813.1:c.4645G>A | NP_001333742.1:p.Glu1549Lys | |
| NM_001363725.1:c.2395G>A | NP_001350654.1:p.Glu799Lys | |
| XM_011535984.2:c.4855G>A | XP_011534286.2:p.Glu1619Lys | |
| XM_011535988.3:c.1786G>A | XP_011534290.1:p.Glu596Lys | |
| XM_017011103.2:c.4756G>A | XP_016866592.1:p.Glu1586Lys | |
| XM_017011104.1:c.4726G>A | XP_016866593.1:p.Glu1576Lys | |
| XM_017011105.2:c.4696G>A | XP_016866594.1:p.Glu1566Lys | |
| XM_017011106.2:c.4567G>A | XP_016866595.1:p.Glu1523Lys | |
| XM_017011107.2:c.4546G>A | XP_016866596.1:p.Glu1516Lys | |
| XR_002956289.1:n.4841G>A | ||
| NM_001363725.2:c.2395G>A | NP_001350654.1:p.Glu799Lys | |
| NM_001371656.1:c.4774G>A | NP_001358585.1:p.Glu1592Lys | |
| NM_001374820.1:c.4774G>A | NP_001361749.1:p.Glu1592Lys | |
| NM_001374828.1:c.4894G>A MANE Select | NP_001361757.1:p.Glu1632Lys | |
| NM_017519.3:c.4735G>A | NP_059989.3:p.Glu1579Lys |