Linked Data
ClinVar Variation Id:
187476
ClinVar RCV Id:
RCV000167209
RCV000205261
RCV000484507
RCV001174684
RCV001781519
RCV003335170
RCV004539566
dbSNP Id:
rs775537066
ExAC:
17:59853848 C / CA
gnomAD v2:
17-59853848-C-CA
gnomAD v3:
17-61776487-C-CA
gnomAD v4:
17-61776487-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61776490dup , CM000679.2:g.61776490dup | GRCh38 |
| NC_000017.10:g.59853851dup , CM000679.1:g.59853851dup | GRCh37 |
| NC_000017.9:g.57208633dup | NCBI36 |
| NG_007409.2:g.92072dup , LRG_300:g.92072dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000579028.2:c.1592dup | ENSP00000463827.2:n.1592dup | |
| ENST00000584322.2:c.2010dup | ENSP00000463272.2:p.Glu671Ter | |
| ENST00000682066.1:c.1503dup | ENSP00000507191.1:p.Glu502Ter | |
| ENST00000682073.1:n.750dup | ||
| ENST00000682433.1:n.1089dup | ||
| ENST00000682453.1:c.2010dup | ENSP00000506943.1:p.Glu671Ter | |
| ENST00000682477.1:c.*1436dup | ENSP00000507075.1:n.*1436dup | |
| ENST00000682589.1:n.7887dup | ||
| ENST00000682611.1:c.1669dup | ENSP00000508326.1:n.1669dup | |
| ENST00000682755.1:c.1788dup | ENSP00000507660.1:p.Glu597Ter | |
| ENST00000682989.1:c.2010dup | ENSP00000507786.1:p.Glu671Ter | |
| ENST00000683039.1:c.2010dup | ENSP00000508303.1:p.Glu671Ter | |
| ENST00000683235.1:c.2010dup | ENSP00000507646.1:p.Glu671Ter | |
| ENST00000683381.1:c.2070dup | ENSP00000508184.1:p.Glu691Ter | |
| ENST00000683535.1:n.140dup | ||
| ENST00000684471.1:n.423dup | ||
| ENST00000684584.1:c.1503dup | ENSP00000508044.1:p.Glu502Ter | |
| ENST00000684769.1:c.75dup | ENSP00000507691.1:p.Glu26Ter | |
| ENST00000259008.7:c.2010dup MANE Select | ENSP00000259008.2:p.Glu671Ter | |
| ENST00000259008.6:c.2010dup | ENSP00000259008.2:p.Glu671Ter | |
| ENST00000577598.5:c.2010dup | ENSP00000464654.1:p.Glu671Ter | |
| ENST00000579028.1:c.703dup | ||
| ENST00000583837.5:n.92dup | ||
| NM_032043.2:c.2010dup , LRG_300t1:c.2010dup | NP_114432.2:p.Glu671Ter | |
| XM_011525332.1:c.2070dup | XP_011523634.1:p.Glu691Ter | |
| XM_011525333.1:c.2070dup | XP_011523635.1:p.Glu691Ter | |
| XM_011525334.1:c.2070dup | XP_011523636.1:p.Glu691Ter | |
| XM_011525335.1:c.2010dup | XP_011523637.1:p.Glu671Ter | |
| XM_011525336.1:c.1950dup | XP_011523638.1:p.Glu651Ter | |
| XM_011525337.1:c.1869dup | XP_011523639.1:p.Glu624Ter | |
| XM_011525338.1:c.1587dup | XP_011523640.1:p.Glu530Ter | |
| XM_011525339.1:c.2070dup | XP_011523641.1:p.Glu691Ter | |
| XM_011525340.1:c.2070dup | XP_011523642.1:p.Glu691Ter | |
| XM_011525332.3:c.2070dup | XP_011523634.1:p.Glu691Ter | |
| XM_011525333.3:c.2070dup | XP_011523635.1:p.Glu691Ter | |
| XM_011525334.2:c.2070dup | XP_011523636.1:p.Glu691Ter | |
| XM_011525335.3:c.2010dup | XP_011523637.1:p.Glu671Ter | |
| XM_011525336.2:c.1950dup | XP_011523638.1:p.Glu651Ter | |
| XM_011525337.2:c.1869dup | XP_011523639.1:p.Glu624Ter | |
| XM_011525338.2:c.1587dup | XP_011523640.1:p.Glu530Ter | |
| XM_011525339.3:c.2070dup | XP_011523641.1:p.Glu691Ter | |
| XM_011525340.3:c.2070dup | XP_011523642.1:p.Glu691Ter | |
| XM_017025200.1:c.1527dup | XP_016880689.1:p.Glu510Ter | |
| XM_017025201.1:c.1527dup | XP_016880690.1:p.Glu510Ter | |
| XM_017025202.1:c.156dup | XP_016880691.1:p.Glu53Ter | |
| XM_017025203.1:c.156dup | XP_016880692.1:p.Glu53Ter | |
| NM_032043.3:c.2010dup MANE Select | NP_114432.2:p.Glu671Ter |