Linked Data
ClinVar Variation Id:
7185
dbSNP Id:
rs746418935
ExAC:
7:117232394 G / GA
gnomAD v2:
7-117232394-G-GA
gnomAD v3:
7-117592340-G-GA
gnomAD v4:
7-117592340-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117592342dup , CM000669.2:g.117592342dup | GRCh38 |
| NC_000007.13:g.117232396dup , CM000669.1:g.117232396dup | GRCh37 |
| NC_000007.12:g.117019632dup | NCBI36 |
| NG_016465.4:g.131559dup , LRG_663:g.131559dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2175dup | ENSP00000497673.2:p.Glu726ArgfsTer4 | |
| ENST00000647978.2:c.*1889dup | ENSP00000497658.1:n.*1889dup | |
| ENST00000649781.2:c.1992dup | ENSP00000497203.1:p.Glu665ArgfsTer4 | |
| ENST00000685018.2:c.2175dup | ENSP00000510194.2:p.Glu726ArgfsTer4 | |
| ENST00000687278.2:c.2175dup | ENSP00000509593.2:p.Glu726ArgfsTer4 | |
| ENST00000699585.1:c.2175dup | ENSP00000514456.1:p.Glu726ArgfsTer4 | |
| ENST00000699598.1:c.2175dup | ENSP00000514467.1:p.Glu726ArgfsTer4 | |
| ENST00000699599.1:c.2175dup | ENSP00000514468.1:p.Glu726ArgfsTer4 | |
| ENST00000699600.1:c.2175dup | ENSP00000514469.1:p.Glu726ArgfsTer4 | |
| ENST00000699601.1:c.*475dup | ENSP00000514470.1:n.*475dup | |
| ENST00000699602.1:c.2175dup | ENSP00000514471.1:p.Glu726ArgfsTer4 | |
| ENST00000699604.1:c.*1999dup | ENSP00000514472.1:n.*1999dup | |
| ENST00000699605.1:c.1749dup | ENSP00000514473.1:p.Glu584ArgfsTer4 | |
| ENST00000003084.11:c.2175dup MANE Select | ENSP00000003084.6:p.Glu726ArgfsTer4 | |
| ENST00000647978.1:c.*1889dup | ENSP00000497658.1:n.*1889dup | |
| ENST00000648260.1:c.1402-10484dup | ENSP00000497957.1:n.1402-10484dup | |
| ENST00000649406.1:c.1992dup | ENSP00000497965.1:p.Glu665ArgfsTer4 | |
| ENST00000649781.1:c.1992dup | ENSP00000497203.1:p.Glu665ArgfsTer4 | |
| ENST00000003084.10:c.2175dup | ENSP00000003084.6:p.Glu726ArgfsTer4 | |
| ENST00000426809.5:c.2085dup | ENSP00000389119.1:p.Glu696ArgfsTer4 | |
| NM_000492.3:c.2175dup , LRG_663t1:c.2175dup | NP_000483.3:p.Glu726ArgfsTer4 | |
| XM_011515751.1:c.2265dup | XP_011514053.1:p.Glu756ArgfsTer4 | |
| XM_011515752.1:c.2265dup | XP_011514054.1:p.Glu756ArgfsTer4 | |
| XM_011515753.1:c.1932dup | XP_011514055.1:p.Glu645ArgfsTer4 | |
| XM_011515754.1:c.1932dup | XP_011514056.1:p.Glu645ArgfsTer4 | |
| NM_000492.4:c.2175dup MANE Select | NP_000483.3:p.Glu726ArgfsTer4 |