Linked Data
ClinVar Variation Id:
185090
ClinVar RCV Id:
RCV000164450
RCV000409520
RCV000412033
RCV000520126
RCV000636160
RCV002247565
RCV003316022
RCV004528910
dbSNP Id:
rs763162379
ExAC:
17:59761311 A / C
gnomAD v3:
17-61683950-A-C
gnomAD v4:
17-61683950-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61683950A>C , CM000679.2:g.61683950A>C | GRCh38 |
| NC_000017.10:g.59761311A>C , CM000679.1:g.59761311A>C | GRCh37 |
| NC_000017.9:g.57116093A>C | NCBI36 |
| NG_007409.2:g.184610T>G , LRG_300:g.184610T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682073.1:n.1836T>G | ||
| ENST00000682453.1:c.3096T>G | ENSP00000506943.1:p.Ser1032Arg | |
| ENST00000682477.1:c.*2522T>G | ENSP00000507075.1:n.*2522T>G | |
| ENST00000682589.1:n.8973T>G | ||
| ENST00000682755.1:c.2874T>G | ENSP00000507660.1:p.Ser958Arg | |
| ENST00000682989.1:c.*187T>G | ENSP00000507786.1:n.*187T>G | |
| ENST00000683039.1:c.3096T>G | ENSP00000508303.1:p.Ser1032Arg | |
| ENST00000683235.1:c.*511T>G | ENSP00000507646.1:n.*511T>G | |
| ENST00000683535.1:n.1226T>G | ||
| ENST00000684584.1:c.2259T>G | ENSP00000508044.1:p.Ser753Arg | |
| ENST00000684626.1:n.1342T>G | ||
| ENST00000684769.1:c.1286T>G | ENSP00000507691.1:n.1286T>G | |
| ENST00000259008.7:c.3096T>G MANE Select | ENSP00000259008.2:p.Ser1032Arg | |
| ENST00000259008.6:c.3096T>G | ENSP00000259008.2:p.Ser1032Arg | |
| NM_032043.2:c.3096T>G , LRG_300t1:c.3096T>G | NP_114432.2:p.Ser1032Arg | |
| XM_011525332.1:c.3156T>G | XP_011523634.1:p.Ser1052Arg | |
| XM_011525333.1:c.3156T>G | XP_011523635.1:p.Ser1052Arg | |
| XM_011525334.1:c.3156T>G | XP_011523636.1:p.Ser1052Arg | |
| XM_011525335.1:c.3096T>G | XP_011523637.1:p.Ser1032Arg | |
| XM_011525336.1:c.3036T>G | XP_011523638.1:p.Ser1012Arg | |
| XM_011525337.1:c.2955T>G | XP_011523639.1:p.Ser985Arg | |
| XM_011525338.1:c.2673T>G | XP_011523640.1:p.Ser891Arg | |
| XM_011525332.3:c.3156T>G | XP_011523634.1:p.Ser1052Arg | |
| XM_011525333.3:c.3156T>G | XP_011523635.1:p.Ser1052Arg | |
| XM_011525334.2:c.3156T>G | XP_011523636.1:p.Ser1052Arg | |
| XM_011525335.3:c.3096T>G | XP_011523637.1:p.Ser1032Arg | |
| XM_011525336.2:c.3036T>G | XP_011523638.1:p.Ser1012Arg | |
| XM_011525337.2:c.2955T>G | XP_011523639.1:p.Ser985Arg | |
| XM_011525338.2:c.2673T>G | XP_011523640.1:p.Ser891Arg | |
| XM_017025200.1:c.2613T>G | XP_016880689.1:p.Ser871Arg | |
| XM_017025201.1:c.2613T>G | XP_016880690.1:p.Ser871Arg | |
| XM_017025202.1:c.1242T>G | XP_016880691.1:p.Ser414Arg | |
| XM_017025203.1:c.1242T>G | XP_016880692.1:p.Ser414Arg | |
| NM_032043.3:c.3096T>G MANE Select | NP_114432.2:p.Ser1032Arg |