Linked Data
ClinVar Variation Id:
158163
dbSNP Id:
rs587783396
ExAC:
9:123163023 C / T
gnomAD v2:
9-123163023-C-T
gnomAD v3:
9-120400745-C-T
gnomAD v4:
9-120400745-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120400745C>T , CM000671.2:g.120400745C>T | GRCh38 |
| NC_000009.11:g.123163023C>T , CM000671.1:g.123163023C>T | GRCh37 |
| NC_000009.10:g.122202844C>T | NCBI36 |
| NG_008999.1:g.184415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360822.8:c.4758G>A | ENSP00000354065.4:p.Glu1586= | |
| ENST00000416449.6:c.5352G>A | ENSP00000400395.2:p.Glu1784= | |
| ENST00000479584.2:n.3695G>A | ||
| ENST00000684780.1:n.5738G>A | ||
| ENST00000685866.1:c.*3273G>A | ENSP00000509484.1:n.*3273G>A | |
| ENST00000686376.1:c.5291G>A | ENSP00000510021.1:n.5291G>A | |
| ENST00000686842.1:n.9002G>A | ||
| ENST00000687279.1:c.5445G>A | ENSP00000508692.1:p.Glu1815= | |
| ENST00000687311.1:n.5411G>A | ||
| ENST00000687633.1:c.5349G>A | ENSP00000510289.1:p.Glu1783= | |
| ENST00000688512.1:c.1056G>A | ENSP00000508546.1:p.Glu352= | |
| ENST00000688923.1:n.4583G>A | ||
| ENST00000689012.1:n.1836G>A | ||
| ENST00000689688.1:c.*511G>A | ENSP00000510155.1:n.*511G>A | |
| ENST00000690646.1:c.5274G>A | ENSP00000510383.1:p.Glu1758= | |
| ENST00000690814.1:c.*2624G>A | ENSP00000508792.1:n.*2624G>A | |
| ENST00000691504.1:n.6304G>A | ||
| ENST00000691551.1:c.1617G>A | ||
| ENST00000692155.1:c.5291G>A | ENSP00000510290.1:n.5291G>A | |
| ENST00000692746.1:n.5118G>A | ||
| ENST00000693386.1:c.5293G>A | ENSP00000510003.1:n.5293G>A | |
| ENST00000693433.1:n.9204G>A | ||
| ENST00000693714.1:n.5395G>A | ||
| ENST00000693728.1:c.5352G>A | ENSP00000510580.1:p.Glu1784= | |
| ENST00000349780.9:c.5448G>A MANE Select | ENSP00000343818.4:p.Glu1816= | |
| ENST00000349780.8:c.5448G>A | ENSP00000343818.4:p.Glu1816= | |
| ENST00000360190.8:c.5211G>A | ENSP00000353317.4:p.Glu1737= | |
| ENST00000360822.7:c.4758G>A | ENSP00000354065.4:p.Glu1586= | |
| ENST00000416449.5:c.3630G>A | ENSP00000400395.1:p.Glu1210= | |
| ENST00000425647.1:c.2478G>A | ENSP00000409941.1:p.Glu826= | |
| ENST00000433194.6:n.544G>A | ||
| ENST00000473282.6:c.*4272G>A | ENSP00000419265.1:n.*4272G>A | |
| ENST00000474262.5:n.275G>A | ||
| ENST00000480112.5:c.*3275G>A | ENSP00000418418.1:n.*3275G>A | |
| ENST00000480467.5:n.660G>A | ||
| ENST00000484546.1:n.998G>A | ||
| NM_001011649.2:c.5211G>A | NP_001011649.1:p.Glu1737= | |
| NM_001272039.1:c.4758G>A | NP_001258968.1:p.Glu1586= | |
| NM_018249.5:c.5448G>A | NP_060719.4:p.Glu1816= | |
| NR_073554.1:n.5715G>A | ||
| NR_073555.1:n.5638G>A | ||
| NR_073556.1:n.5847G>A | ||
| NR_073557.1:n.5720G>A | ||
| NR_073558.1:n.5717G>A | ||
| XM_006717182.1:c.5352G>A | XP_006717245.1:p.Glu1784= | |
| XM_006717185.1:c.4761G>A | XP_006717248.1:p.Glu1587= | |
| XM_011518860.1:c.5445G>A | XP_011517162.1:p.Glu1815= | |
| XM_011518861.1:c.5445G>A | XP_011517163.1:p.Glu1815= | |
| XM_017014921.1:c.5349G>A | XP_016870410.1:p.Glu1783= | |
| XM_017014922.1:c.4614G>A | XP_016870411.1:p.Glu1538= | |
| XM_017014923.1:c.4524G>A | XP_016870412.1:p.Glu1508= | |
| XM_017014924.1:c.3006G>A | XP_016870413.1:p.Glu1002= | |
| NM_018249.6:c.5448G>A MANE Select | NP_060719.4:p.Glu1816= | |
| NM_001011649.3:c.5211G>A | NP_001011649.1:p.Glu1737= | |
| NR_073554.2:n.5712G>A | ||
| NR_073555.2:n.5635G>A | ||
| NR_073556.2:n.5844G>A | ||
| NR_073557.2:n.5717G>A | ||
| NR_073558.2:n.5714G>A | ||
| NM_001272039.2:c.4758G>A | NP_001258968.1:p.Glu1586= |