Linked Data
ClinVar Variation Id:
94351
dbSNP Id:
rs398123799
ExAC:
2:71908162 C / CA
gnomAD v2:
2-71908162-C-CA
gnomAD v3:
2-71681032-C-CA
gnomAD v4:
2-71681032-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71681033dup , CM000664.2:g.71681033dup | GRCh38 |
| NC_000002.11:g.71908163dup , CM000664.1:g.71908163dup | GRCh37 |
| NC_000002.10:g.71761671dup | NCBI36 |
| NG_008694.1:g.232411dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698057.1:c.3510dup | ENSP00000513536.1:p.Glu1171ArgfsTer3 | |
| ENST00000698058.1:c.2727dup | ENSP00000513537.1:p.Glu910ArgfsTer3 | |
| ENST00000698059.1:c.2835dup | ENSP00000513538.1:p.Glu946ArgfsTer3 | |
| ENST00000258104.8:c.5979dup MANE Plus Clinical | ENSP00000258104.3:p.Glu1994ArgfsTer3 | |
| ENST00000410020.8:c.6096dup MANE Select | ENSP00000386881.3:p.Glu2033ArgfsTer3 | |
| ENST00000258104.7:c.5979dup | ENSP00000258104.3:p.Glu1994ArgfsTer3 | |
| ENST00000394120.6:c.5982dup | ENSP00000377678.2:p.Glu1995ArgfsTer3 | |
| ENST00000409366.5:c.6045dup | ENSP00000386512.1:p.Glu2016ArgfsTer3 | |
| ENST00000409582.7:c.6093dup | ENSP00000386547.3:p.Glu2032ArgfsTer3 | |
| ENST00000409651.5:c.6075dup | ENSP00000386683.1:p.Glu2026ArgfsTer3 | |
| ENST00000409744.5:c.6003dup | ENSP00000386285.1:p.Glu2002ArgfsTer3 | |
| ENST00000409762.5:c.6030dup | ENSP00000387137.1:p.Glu2011ArgfsTer3 | |
| ENST00000410020.7:c.6096dup | ENSP00000386881.3:p.Glu2033ArgfsTer3 | |
| ENST00000410041.1:c.6033dup | ENSP00000386617.1:p.Glu2012ArgfsTer3 | |
| ENST00000413539.6:c.6072dup | ENSP00000407046.2:p.Glu2025ArgfsTer3 | |
| ENST00000429174.6:c.6042dup | ENSP00000398305.2:p.Glu2015ArgfsTer3 | |
| ENST00000479049.6:n.2864dup | ||
| NM_001130455.1:c.5982dup | NP_001123927.1:p.Glu1995ArgfsTer3 | |
| NM_001130976.1:c.5937dup | NP_001124448.1:p.Glu1980ArgfsTer3 | |
| NM_001130977.1:c.6000dup | NP_001124449.1:p.Glu2001ArgfsTer3 | |
| NM_001130978.1:c.6042dup | NP_001124450.1:p.Glu2015ArgfsTer3 | |
| NM_001130979.1:c.6072dup | NP_001124451.1:p.Glu2025ArgfsTer3 | |
| NM_001130980.1:c.6030dup | NP_001124452.1:p.Glu2011ArgfsTer3 | |
| NM_001130981.1:c.6093dup | NP_001124453.1:p.Glu2032ArgfsTer3 | |
| NM_001130982.1:c.6075dup | NP_001124454.1:p.Glu2026ArgfsTer3 | |
| NM_001130983.1:c.6045dup | NP_001124455.1:p.Glu2016ArgfsTer3 | |
| NM_001130984.1:c.6003dup | NP_001124456.1:p.Glu2002ArgfsTer3 | |
| NM_001130985.1:c.6033dup | NP_001124457.1:p.Glu2012ArgfsTer3 | |
| NM_001130986.1:c.5940dup | NP_001124458.1:p.Glu1981ArgfsTer3 | |
| NM_001130987.1:c.6096dup | NP_001124459.1:p.Glu2033ArgfsTer3 | |
| NM_003494.3:c.5979dup | NP_003485.1:p.Glu1994ArgfsTer3 | |
| XM_005264584.3:c.6138dup | XP_005264641.1:p.Glu2047ArgfsTer3 | |
| XM_005264585.3:c.6135dup | XP_005264642.1:p.Glu2046ArgfsTer3 | |
| XM_005264584.4:c.6138dup | XP_005264641.1:p.Glu2047ArgfsTer3 | |
| XM_005264585.5:c.6135dup | XP_005264642.1:p.Glu2046ArgfsTer3 | |
| NM_001130987.2:c.6096dup MANE Select | NP_001124459.1:p.Glu2033ArgfsTer3 | |
| NM_001130455.2:c.5982dup | NP_001123927.1:p.Glu1995ArgfsTer3 | |
| NM_001130976.2:c.5937dup | NP_001124448.1:p.Glu1980ArgfsTer3 | |
| NM_001130977.2:c.6000dup | NP_001124449.1:p.Glu2001ArgfsTer3 | |
| NM_001130978.2:c.6042dup | NP_001124450.1:p.Glu2015ArgfsTer3 | |
| NM_001130979.2:c.6072dup | NP_001124451.1:p.Glu2025ArgfsTer3 | |
| NM_001130980.2:c.6030dup | NP_001124452.1:p.Glu2011ArgfsTer3 | |
| NM_001130981.2:c.6093dup | NP_001124453.1:p.Glu2032ArgfsTer3 | |
| NM_001130982.2:c.6075dup | NP_001124454.1:p.Glu2026ArgfsTer3 | |
| NM_001130983.2:c.6045dup | NP_001124455.1:p.Glu2016ArgfsTer3 | |
| NM_001130984.2:c.6003dup | NP_001124456.1:p.Glu2002ArgfsTer3 | |
| NM_001130985.2:c.6033dup | NP_001124457.1:p.Glu2012ArgfsTer3 | |
| NM_001130986.2:c.5940dup | NP_001124458.1:p.Glu1981ArgfsTer3 | |
| NM_003494.4:c.5979dup MANE Plus Clinical | NP_003485.1:p.Glu1994ArgfsTer3 |