Linked Data
ClinVar Variation Id:
230751
dbSNP Id:
rs876658746
gnomAD v2:
17-59761117-T-G
gnomAD v3:
17-61683756-T-G
gnomAD v4:
17-61683756-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683756T>G , CM000679.2:g.61683756T>G | GRCh38 |
| NC_000017.10:g.59761117T>G , CM000679.1:g.59761117T>G | GRCh37 |
| NC_000017.9:g.57115899T>G | NCBI36 |
| NG_007409.2:g.184804A>C , LRG_300:g.184804A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2030A>C | ||
| ENST00000682453.1:c.3290A>C | ENSP00000506943.1:p.Glu1097Ala | |
| ENST00000682477.1:c.*2716A>C | ENSP00000507075.1:n.*2716A>C | |
| ENST00000682589.1:n.9167A>C | ||
| ENST00000682755.1:c.3068A>C | ENSP00000507660.1:p.Glu1023Ala | |
| ENST00000682989.1:c.*381A>C | ENSP00000507786.1:n.*381A>C | |
| ENST00000683039.1:c.3290A>C | ENSP00000508303.1:p.Glu1097Ala | |
| ENST00000683235.1:c.*705A>C | ENSP00000507646.1:n.*705A>C | |
| ENST00000683535.1:n.1420A>C | ||
| ENST00000684584.1:c.2453A>C | ENSP00000508044.1:p.Glu818Ala | |
| ENST00000684626.1:n.1536A>C | ||
| ENST00000684769.1:c.1480A>C | ENSP00000507691.1:n.1480A>C | |
| ENST00000259008.7:c.3290A>C MANE Select | ENSP00000259008.2:p.Glu1097Ala | |
| ENST00000259008.6:c.3290A>C | ENSP00000259008.2:p.Glu1097Ala | |
| NM_032043.2:c.3290A>C , LRG_300t1:c.3290A>C | NP_114432.2:p.Glu1097Ala | |
| XM_011525332.1:c.3350A>C | XP_011523634.1:p.Glu1117Ala | |
| XM_011525333.1:c.3350A>C | XP_011523635.1:p.Glu1117Ala | |
| XM_011525334.1:c.3350A>C | XP_011523636.1:p.Glu1117Ala | |
| XM_011525335.1:c.3290A>C | XP_011523637.1:p.Glu1097Ala | |
| XM_011525336.1:c.3230A>C | XP_011523638.1:p.Glu1077Ala | |
| XM_011525337.1:c.3149A>C | XP_011523639.1:p.Glu1050Ala | |
| XM_011525338.1:c.2867A>C | XP_011523640.1:p.Glu956Ala | |
| XM_011525332.3:c.3350A>C | XP_011523634.1:p.Glu1117Ala | |
| XM_011525333.3:c.3350A>C | XP_011523635.1:p.Glu1117Ala | |
| XM_011525334.2:c.3350A>C | XP_011523636.1:p.Glu1117Ala | |
| XM_011525335.3:c.3290A>C | XP_011523637.1:p.Glu1097Ala | |
| XM_011525336.2:c.3230A>C | XP_011523638.1:p.Glu1077Ala | |
| XM_011525337.2:c.3149A>C | XP_011523639.1:p.Glu1050Ala | |
| XM_011525338.2:c.2867A>C | XP_011523640.1:p.Glu956Ala | |
| XM_017025200.1:c.2807A>C | XP_016880689.1:p.Glu936Ala | |
| XM_017025201.1:c.2807A>C | XP_016880690.1:p.Glu936Ala | |
| XM_017025202.1:c.1436A>C | XP_016880691.1:p.Glu479Ala | |
| XM_017025203.1:c.1436A>C | XP_016880692.1:p.Glu479Ala | |
| NM_032043.3:c.3290A>C MANE Select | NP_114432.2:p.Glu1097Ala |