Linked Data
ClinVar Variation Id:
128180
ClinVar RCV Id:
RCV000116149
RCV000409338
RCV000585934
RCV000411198
RCV000199089
RCV001030467
RCV000855583
RCV003315655
RCV004529951
RCV003492507
dbSNP Id:
rs140233356
ExAC:
17:59763272 G / C
gnomAD v2:
17-59763272-G-C
gnomAD v3:
17-61685911-G-C
gnomAD v4:
17-61685911-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61685911G>C , CM000679.2:g.61685911G>C | GRCh38 |
| NC_000017.10:g.59763272G>C , CM000679.1:g.59763272G>C | GRCh37 |
| NC_000017.9:g.57118054G>C | NCBI36 |
| NG_007409.2:g.182649C>G , LRG_300:g.182649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682066.1:c.2960C>G | ENSP00000507191.1:n.2960C>G | |
| ENST00000682073.1:n.1570C>G | ||
| ENST00000682433.1:n.1909C>G | ||
| ENST00000682453.1:c.2830C>G | ENSP00000506943.1:p.Gln944Glu | |
| ENST00000682477.1:c.*2256C>G | ENSP00000507075.1:n.*2256C>G | |
| ENST00000682589.1:n.8707C>G | ||
| ENST00000682755.1:c.2608C>G | ENSP00000507660.1:p.Gln870Glu | |
| ENST00000682989.1:c.2610-1771C>G | ENSP00000507786.1:n.2610-1771C>G | |
| ENST00000683039.1:c.2830C>G | ENSP00000508303.1:p.Gln944Glu | |
| ENST00000683235.1:c.*245C>G | ENSP00000507646.1:n.*245C>G | |
| ENST00000683535.1:n.960C>G | ||
| ENST00000684471.1:n.1243C>G | ||
| ENST00000684584.1:c.2069-1771C>G | ENSP00000508044.1:n.2069-1771C>G | |
| ENST00000684626.1:n.1076C>G | ||
| ENST00000684769.1:c.1020C>G | ENSP00000507691.1:n.1020C>G | |
| ENST00000259008.7:c.2830C>G MANE Select | ENSP00000259008.2:p.Gln944Glu | |
| ENST00000259008.6:c.2830C>G | ENSP00000259008.2:p.Gln944Glu | |
| ENST00000577598.5:c.2830C>G | ENSP00000464654.1:p.Gln944Glu | |
| NM_032043.2:c.2830C>G , LRG_300t1:c.2830C>G | NP_114432.2:p.Gln944Glu | |
| XM_011525332.1:c.2890C>G | XP_011523634.1:p.Gln964Glu | |
| XM_011525333.1:c.2890C>G | XP_011523635.1:p.Gln964Glu | |
| XM_011525334.1:c.2890C>G | XP_011523636.1:p.Gln964Glu | |
| XM_011525335.1:c.2830C>G | XP_011523637.1:p.Gln944Glu | |
| XM_011525336.1:c.2770C>G | XP_011523638.1:p.Gln924Glu | |
| XM_011525337.1:c.2689C>G | XP_011523639.1:p.Gln897Glu | |
| XM_011525338.1:c.2407C>G | XP_011523640.1:p.Gln803Glu | |
| XM_011525332.3:c.2890C>G | XP_011523634.1:p.Gln964Glu | |
| XM_011525333.3:c.2890C>G | XP_011523635.1:p.Gln964Glu | |
| XM_011525334.2:c.2890C>G | XP_011523636.1:p.Gln964Glu | |
| XM_011525335.3:c.2830C>G | XP_011523637.1:p.Gln944Glu | |
| XM_011525336.2:c.2770C>G | XP_011523638.1:p.Gln924Glu | |
| XM_011525337.2:c.2689C>G | XP_011523639.1:p.Gln897Glu | |
| XM_011525338.2:c.2407C>G | XP_011523640.1:p.Gln803Glu | |
| XM_017025200.1:c.2347C>G | XP_016880689.1:p.Gln783Glu | |
| XM_017025201.1:c.2347C>G | XP_016880690.1:p.Gln783Glu | |
| XM_017025202.1:c.976C>G | XP_016880691.1:p.Gln326Glu | |
| XM_017025203.1:c.976C>G | XP_016880692.1:p.Gln326Glu | |
| NM_032043.3:c.2830C>G MANE Select | NP_114432.2:p.Gln944Glu |