Linked Data
dbSNP Id:
rs140786573
ExAC:
11:68846396 G / A
gnomAD v2:
11-68846396-G-A
gnomAD v3:
11-69078928-G-A
gnomAD v4:
11-69078928-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69078928G>A , CM000673.2:g.69078928G>A | GRCh38 |
| NC_000011.9:g.68846396G>A , CM000673.1:g.68846396G>A | GRCh37 |
| NC_000011.8:g.68602972G>A | NCBI36 |
| NG_016153.1:g.35047G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692585.1:c.304G>A | ENSP00000509200.1:p.Glu102Lys | |
| ENST00000294309.8:c.1447G>A MANE Select | ENSP00000294309.3:p.Glu483Lys | |
| ENST00000635811.1:c.1447G>A | ENSP00000490341.1:p.Glu483Lys | |
| ENST00000637084.1:c.304G>A | ENSP00000490615.1:p.Glu102Lys | |
| ENST00000637342.1:c.1447G>A | ENSP00000490171.1:p.Glu483Lys | |
| ENST00000637504.1:c.1447G>A | ENSP00000489759.1:p.Glu483Lys | |
| ENST00000294309.7:c.1447G>A | ENSP00000294309.3:p.Glu483Lys | |
| ENST00000442692.2:n.1040G>A | ||
| ENST00000535009.5:n.1256G>A | ||
| ENST00000542467.1:c.1447G>A | ENSP00000445551.1:p.Glu483Lys | |
| NM_139075.3:c.1447G>A | NP_620714.2:p.Glu483Lys | |
| XM_005273824.2:c.1444G>A | XP_005273881.1:p.Glu482Lys | |
| XM_005273826.2:c.1192G>A | XP_005273883.1:p.Glu398Lys | |
| XM_005273827.2:c.1447G>A | XP_005273884.1:p.Glu483Lys | |
| XM_005273828.2:c.1447G>A | XP_005273885.1:p.Glu483Lys | |
| XM_005273830.2:c.754G>A | XP_005273887.1:p.Glu252Lys | |
| XM_005273831.2:c.754G>A | XP_005273888.1:p.Glu252Lys | |
| XM_005273832.2:c.724G>A | XP_005273889.1:p.Glu242Lys | |
| XM_006718453.2:c.1447G>A | XP_006718516.1:p.Glu483Lys | |
| XM_006718454.2:c.1447G>A | XP_006718517.1:p.Glu483Lys | |
| XM_006718456.2:c.1447G>A | XP_006718519.1:p.Glu483Lys | |
| XM_011544802.1:c.1207G>A | XP_011543104.1:p.Glu403Lys | |
| XM_011544803.1:c.1447G>A | XP_011543105.1:p.Glu483Lys | |
| XM_011544804.1:c.1447G>A | XP_011543106.1:p.Glu483Lys | |
| XM_011544805.1:c.1447G>A | XP_011543107.1:p.Glu483Lys | |
| XM_011544806.1:c.1447G>A | XP_011543108.1:p.Glu483Lys | |
| XM_011544807.1:c.751G>A | XP_011543109.1:p.Glu251Lys | |
| XM_011544808.1:c.616G>A | XP_011543110.1:p.Glu206Lys | |
| XR_247191.1:n.1548G>A | ||
| XM_005273824.4:c.1444G>A | XP_005273881.1:p.Glu482Lys | |
| XM_005273826.4:c.1192G>A | XP_005273883.1:p.Glu398Lys | |
| XM_005273830.4:c.754G>A | XP_005273887.1:p.Glu252Lys | |
| XM_005273831.4:c.754G>A | XP_005273888.1:p.Glu252Lys | |
| XM_005273832.4:c.724G>A | XP_005273889.1:p.Glu242Lys | |
| XM_011544802.3:c.1207G>A | XP_011543104.1:p.Glu403Lys | |
| XM_011544807.3:c.751G>A | XP_011543109.1:p.Glu251Lys | |
| XM_011544808.3:c.616G>A | XP_011543110.1:p.Glu206Lys | |
| XM_017017328.2:c.1278G>A | XP_016872817.1:p.Trp426Ter | |
| XM_017017329.2:c.1275G>A | XP_016872818.1:p.Trp425Ter | |
| XM_017017330.2:c.724G>A | XP_016872819.1:p.Glu242Lys | |
| XM_017017331.2:c.724G>A | XP_016872820.1:p.Glu242Lys | |
| XM_017017332.2:c.538G>A | XP_016872821.1:p.Glu180Lys | |
| XM_017017333.2:c.555G>A | XP_016872822.1:p.Trp185Ter | |
| XM_017017334.2:c.555G>A | XP_016872823.1:p.Trp185Ter | |
| XM_017017335.2:c.555G>A | XP_016872824.1:p.Trp185Ter | |
| XM_017017336.2:c.447G>A | XP_016872825.1:p.Trp149Ter | |
| XM_024448392.1:c.1237G>A | XP_024304160.1:p.Glu413Lys | |
| XM_024448393.1:c.724G>A | XP_024304161.1:p.Glu242Lys | |
| XR_001747789.2:n.1379G>A | ||
| XR_001747790.2:n.1379G>A | ||
| XR_247191.3:n.1551G>A | ||
| NM_139075.4:c.1447G>A MANE Select | NP_620714.2:p.Glu483Lys |