Linked Data
ClinVar Variation Id:
128187
ClinVar RCV Id:
RCV000116156
RCV000212334
RCV000411633
RCV000587193
RCV000989979
RCV001354736
RCV000410562
RCV004529953
RCV001080937
dbSNP Id:
rs145855459
ExAC:
17:59761029 T / G
gnomAD v2:
17-59761029-T-G
gnomAD v3:
17-61683668-T-G
gnomAD v4:
17-61683668-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683668T>G , CM000679.2:g.61683668T>G | GRCh38 |
| NC_000017.10:g.59761029T>G , CM000679.1:g.59761029T>G | GRCh37 |
| NC_000017.9:g.57115811T>G | NCBI36 |
| NG_007409.2:g.184892A>C , LRG_300:g.184892A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.2118A>C | ||
| ENST00000682453.1:c.3378A>C | ENSP00000506943.1:p.Glu1126Asp | |
| ENST00000682477.1:c.*2804A>C | ENSP00000507075.1:n.*2804A>C | |
| ENST00000682589.1:n.9255A>C | ||
| ENST00000682755.1:c.3156A>C | ENSP00000507660.1:p.Glu1052Asp | |
| ENST00000682989.1:c.*469A>C | ENSP00000507786.1:n.*469A>C | |
| ENST00000683039.1:c.3378A>C | ENSP00000508303.1:p.Glu1126Asp | |
| ENST00000683235.1:c.*793A>C | ENSP00000507646.1:n.*793A>C | |
| ENST00000683535.1:n.1508A>C | ||
| ENST00000684584.1:c.2541A>C | ENSP00000508044.1:p.Glu847Asp | |
| ENST00000684626.1:n.1624A>C | ||
| ENST00000684769.1:c.1568A>C | ENSP00000507691.1:n.1568A>C | |
| ENST00000259008.7:c.3378A>C MANE Select | ENSP00000259008.2:p.Glu1126Asp | |
| ENST00000259008.6:c.3378A>C | ENSP00000259008.2:p.Glu1126Asp | |
| NM_032043.2:c.3378A>C , LRG_300t1:c.3378A>C | NP_114432.2:p.Glu1126Asp | |
| XM_011525332.1:c.3438A>C | XP_011523634.1:p.Glu1146Asp | |
| XM_011525333.1:c.3438A>C | XP_011523635.1:p.Glu1146Asp | |
| XM_011525334.1:c.3438A>C | XP_011523636.1:p.Glu1146Asp | |
| XM_011525335.1:c.3378A>C | XP_011523637.1:p.Glu1126Asp | |
| XM_011525336.1:c.3318A>C | XP_011523638.1:p.Glu1106Asp | |
| XM_011525337.1:c.3237A>C | XP_011523639.1:p.Glu1079Asp | |
| XM_011525338.1:c.2955A>C | XP_011523640.1:p.Glu985Asp | |
| XM_011525332.3:c.3438A>C | XP_011523634.1:p.Glu1146Asp | |
| XM_011525333.3:c.3438A>C | XP_011523635.1:p.Glu1146Asp | |
| XM_011525334.2:c.3438A>C | XP_011523636.1:p.Glu1146Asp | |
| XM_011525335.3:c.3378A>C | XP_011523637.1:p.Glu1126Asp | |
| XM_011525336.2:c.3318A>C | XP_011523638.1:p.Glu1106Asp | |
| XM_011525337.2:c.3237A>C | XP_011523639.1:p.Glu1079Asp | |
| XM_011525338.2:c.2955A>C | XP_011523640.1:p.Glu985Asp | |
| XM_017025200.1:c.2895A>C | XP_016880689.1:p.Glu965Asp | |
| XM_017025201.1:c.2895A>C | XP_016880690.1:p.Glu965Asp | |
| XM_017025202.1:c.1524A>C | XP_016880691.1:p.Glu508Asp | |
| XM_017025203.1:c.1524A>C | XP_016880692.1:p.Glu508Asp | |
| NM_032043.3:c.3378A>C MANE Select | NP_114432.2:p.Glu1126Asp |